Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. (2009). "Single Nucleotide Polymorphisms in Human Gene icb-1 ...

9 December 2004). "A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms". Nature. 432 (7018): ...

About 30 polymorphisms are known most of which are single-nucleotide polymorphisms. The primary transcript of the human RAGE ... Hudson BI, Stickland MH, Futers TS, Grant PJ (June 2001). "Effects of novel polymorphisms in the RAGE gene on transcriptional ...

July 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nature Genetics. ... The pseudogene is due to a change in a single nucleotide in the codon for the penultimate amino acid, i.e. glutamine, in the ...

Kendal, WS (2003). "An exponential dispersion model for the distribution of human single nucleotide polymorphisms". Mol Biol ...

polymorphisms in the renalase gene is a risk factor for essential hypertension. Single nucleotide polymorphisms in the renalase ...

1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-238. doi ...

"Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nat. Genet. 22 (3): 239-47. doi ... Hoffstedt J, Poirier O, Thörne A, Lönnqvist F, Herrmann SM, Cambien F, Arner P (1999). "Polymorphism of the human beta3- ...

Single-nucleotide polymorphisms (SNPs) are found in genes coding for β-defensins. The presences of SNPs are lower in the coding ... across passerine bird species reveals within-species coding variation and a case of trans-species polymorphisms". Molecular ...

July 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nature Genetics. ... February 2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean ... September 2002). "The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with ...

Furthermore, many positions in a genome contain rare single-nucleotide polymorphisms (SNPs). Hence to distinguish between ... Even though the sequencing accuracy for each individual nucleotide is very high, the very large number of nucleotides in the ... is the number of unique reads that include a given nucleotide in the reconstructed sequence. Deep sequencing refers to the ... a hypothetical genome with 2,000 base pairs reconstructed from 8 reads with an average length of 500 nucleotides will have 2× ...

Single changes from the original sequence are called single nucleotide polymorphisms (SNPs).[dubious - discuss] Human Y ... is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. More specifically ... A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid ... All men carrying mutation A form a single haplogroup, and all men carrying mutation B are part of this haplogroup, but mutation ...

There are three polymorphisms in the promoter region of the gene, resulting in two common variants. Several single nucleotide ... Cross-sectional studies (based on a single point in time) suggest that serum levels of cystatin C are a more precise test of ... polymorphisms have been associated with altered cystatin C levels. Cystatin C is a non-glycosylated, basic protein (isoelectric ...

1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. doi: ... Haslam RJ, Williams KA, Davidson MM (1985). "Receptor-Effector Coupling in Platelets: Roles of Guanine Nucleotides". Mechanisms ...

In another study, various single nucleotide polymorphisms were linked to somatic symptoms. Evidence suggests that along with ...

Various single-nucleotide polymorphisms (SNPs) of the OX40L gene have been identified. For some of them association with ... "Absence of association between atherosclerotic cerebral infarction and TNFSF4/TNFRSF4 single nucleotide polymorphisms rs1234313 ... July 2013). "Association of TNFSF4 polymorphisms with systemic lupus erythematosus: a meta-analysis". Modern Rheumatology. 23 ( ...

It is a single nucleotide polymorphism in the TPH1 gene and located in intron 7. It has been examined in relation to ... "No association between the TPH A218C polymorphism and personality traits in Japanese healthy subjects". Progress in Neuro- ... "The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients: hints to nonspecific ...

In 2008, rs7341475 single nucleotide polymorphism (SNP) of the reelin gene was associated with an increased risk of ... One genome-wide association study analyzed single-nucleotide polymorphism (SNP) data for the five disorders; four gene areas ... The largest most comprehensive genetic study of its kind, involving tests of several hundred single-nucleotide polymorphisms ( ... this collaboration identified by meta-analysis of genome-wide association studies that 129 single-nucleotide polymorphism (SNP ...

The baiji has the lowest single nucleotide polymorphism (SNP) frequency reported thus far among mammals. This low frequency ... Low values of haplotype diversity and nucleotide diversity were found for the baiji of the Yangtze River. The analysis of ...

... i UCP3 were confirmed containing four single nucleotide polymorphism rs1800849, rs11235972, rs1726745 and rs3781907. There ... The energy consumption of modulated and the association of -55CT polymorphism of UCP3 with the body weight and in type 2 ... "A prevalent polymorphism in the promoter of the UCP3 gene and its relationship to body mass index and long term body weight ... 55CT polymorphism of UCP3 with body weight in type 2 diabetic patients". International Journal of Obesity. 38 (6): 873-7. doi: ...

A single nucleotide switch (polymorphism) in FRAS1 promoter region is associated with metastatic Prostate cancer. The promoter ... July 2021). "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer". The ... July 2021). "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer". The ...

A single-nucleotide polymorphism that results in the production of an additional, longer isoform has been described. A mouse ... "Multi-forms of human MTH1 polypeptides produced by alternative translation initiation and single nucleotide polymorphism". ... even calling into question whether MTH1 truly does serve to remove oxidatively damaged nucleotides from a cell's nucleotide ... MutT enzymes in non-human organisms often have substrate specificity for certain types of oxidized nucleotides, such as that of ...

... is defined by the presence of the L275 single-nucleotide polymorphism (SNP). Haplogroup Q-L275 can be ...

2007). "Ninjurin 1 asp110ala single nucleotide polymorphism is associated with protection in leprosy nerve damage". J. ... 2007). "WITHDRAWN: Association between polymorphisms in genes of inflammatory response and axonal repair with spinal cord ...

A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism ... Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a protein that in humans is encoded by the GNB3 gene. ... 2005). "[C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk]". Ann. Ital. Med. ... GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. ...

Ono K, Mannami T, Baba S, Tomoike H, Suga S, Iwai N (September 2002). "A single-nucleotide polymorphism in C-type natriuretic ...

... is defined by the presence of the NWT01 Single Nucleotide Polymorphism (SNP). Q-NWT01 has descendants in the ...

... is defined by the presence of the (M3) single-nucleotide polymorphism (SNP). Q-M3 occurred on the Q-L54 lineage ...

"Understanding Results: Y-DNA Single Nucleotide Polymorphism (SNP): What is a Y-chromosome DNA (Y-DNA) haplogroup?". Family Tree ... "Understanding Results: Y-DNA Single Nucleotide Polymorphism (SNP): How are haplogroups and their subclades named?". Family Tree ... and types of mutations called single-nucleotide polymorphisms (SNPs). The human Y-chromosome accumulates roughly two mutations ... of the world Y-DNA haplogroups in populations of Europe Genetic history of Europe List of Y-DNA single-nucleotide polymorphisms ...

The DNA methylation of SKA2 gene and the Single-nucleotide polymorphism rs7208505 genotype may have effects on suicidal ... The SKA2 gene contains one single-nucleotide polymorphism (SNP) rs7208505 located in the 3' UTR. This genetic variant ... The genotype rs7208505 contains a single nucleotide polymorphism (SNP) containing a Cytosine variant allele instead of Thymine ...

Expanded dog leukocyte antigen (DLA) single nucleotide polymorphism (SNP) genotyping reveals spurious class II associations. - ...

A single nucleotide polymorphism (mutation), in the sodium/myo-inositol cotransporter (SLC5A3) gene causes FIS. This gene is ...

The editing site was previously recorded as a single nucleotide polymorphism (rs3207362) in the dbSNP. A to I RNA editing is ...

... a common non-synonymous single nucleotide polymorphism in exon 12 was also identified. The presence of various CTH mutations is ...

... is defined by the presence of the M323 Single Nucleotide Polymorphism (SNP). Q-M323 was discovered in the ...

"Lack of association between the single nucleotide polymorphism of ST18 and pemphigus in Chinese population". J. Dermatol. 41 (4 ...

mtDNA haplogroups are defined by the presence of a series of single-nucleotide polymorphism (SNP) markers in the hypervariable ... "Understanding Results: Y-DNA Single Nucleotide Polymorphism (SNP): How are haplogroups and their subclades named?". Family Tree ...

"A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese". European Journal ... Yin YW, Sun QQ, Wang PJ, Qiao L, Hu AM, Liu HL, Wang Q, Hou ZZ (2014-01-01). "Genetic polymorphism of apolipoprotein A5 gene ... Liu CF, Yang QF, Chen XL, Liu CY (October 2012). "Apolipoprotein a5 gene polymorphism and risk for metabolic syndrome: a meta- ... Hubacek JA, Skodová Z, Adámková V, Lánská V, Poledne R (February 2004). "The influence of APOAV polymorphisms (T-1131>C and S19 ...

A tag SNP is a representative single nucleotide polymorphism (SNP) in a region of the genome with high linkage disequilibrium ... Genome-wide association studies (GWAS) use single-nucleotide polymorphisms (SNPs) to identify genetic associations with ... International HapMap Project Genome-wide association study Single Nucleotide Polymorphism Linkage disequilibrium Bush, William ... If a single highly correlated tag SNP t is found, the alleles are assigned so their frequencies agree with the allele ...

One common form of variation across human genomes is called a single nucleotide polymorphism (SNP). As indicated by the name, ... SNPs are single base changes in the DNA. SNP variants tend to be common in different human populations. These polymorphisms ...

... is defined by the presence of the P89.1 Single Nucleotide Polymorphism (SNP). In 2010, Q-P89.1 was ... "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research. 18 (5): ...

... and one based on whether the sequence consists of a minimum number of single nucleotide polymorphisms (SNPs) that explain a ... "Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genome". Human Molecular Genetics. 13 (3): 335- ...

A single-nucleotide polymorphism (SNP) is a genetic variation in which a genome sequence is altered by a single nucleotide (A, ... There is evidence that single-nucleotide polymorphisms in the NET gene (SLC6A2) may be an underlying factor in some of these ... "Further evidence of association between two NET single-nucleotide polymorphisms with ADHD". Molecular Psychiatry. 13 (6): 624- ... symporter Solute carrier family Norepinephrine Monoamine transporter Orthostatic intolerance Single-nucleotide polymorphisms ...

1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. doi: ...

Single nucleotide polymorphisms (SNPs) of NAT1 include R64W, V149I, R187Q, M205V, S214A, D251V, E26K, and I263V, and are ... Walraven, Jason M.; Trent, John O.; Hein, David W. (2008). "Structure-Function Analysis of Single Nucleotide Polymorphisms in ... Rajasekaran, M.; Abirami, Santhanam; Chen, Chinpan (2011). "Effects of Single Nucleotide Polymorphisms on Human N- ... Polymorphisms of NAT2 include the single amino acid substitutions R64Q, I114T, D122N, L137F, Q145P, R197Q, and G286E. These are ...

The local density of Single Nucleotide Polymorphisms (SNPs) within the human genome, as well as that of genes, appears to ... Kendal, WS (2003). "An exponential dispersion model for the distribution of human single nucleotide polymorphisms". Mol Biol ... 2001). "A map of human genome variation containing 1.42 million single nucleotide polymorphisms". Nature. 409 (6822): 928-933. ... and the nucleotide heterozygosity. The first two factors reflect ascertainment errors inherent to the collection methods, the ...

Kendal, WS (2003). "An exponential dispersion model for the distribution of human single nucleotide polymorphisms". Mol Biol ... clustering of childhood leukemia blood flow heterogeneity the genomic distributions of single-nucleotide polymorphisms (SNPs) ... A value of a < 1 is taken to mean that the basic unit of the distribution is a single individual. Where the statistic s2/m is ... These results suggest that rather than a single regression line for the data set, a segmental regression may be a better model ...

1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. doi: ... Tait JF, Smith C, Xu L, Cookson BT (1994). "Structure and polymorphisms of the human annexin III (ANX3) gene". Genomics. 18 (1 ...

Various single nucleotide polymorphisms (SNPs) of the TLR2 have been identified and for some of them an association with faster ... Schröder NW, Schumann RR (March 2005). "Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious ... Functionally relevant polymorphisms are reported that cause functional impairment and thus, in general, reduced survival rates ... The authors showed a correlation of the polymorphism with a faster progression to the CD4+ < 200 cells/μL outcome for the ...

Ghanta, Sujana (October 2010). "Non-Invasive Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms". ... These mutations commonly include single base pair substitutions, deletions, and insertions. Oxidative damage is another ...

December 9, 2004). "A genetic variation map for chicken with 2.8 million single nucleotide polymorphisms". Nature. 432 (7018): ... According to one early study, a single domestication event of the red junglefowl in present-day Thailand gave rise to the ... Nature study that fully sequenced 863 chickens across the world suggests that all domestic chickens originate from a single ...

There are various single nucleotide polymorphisms (SNPs) that can occur in tmem242. A few cause stop codons, others make either ...

July 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nature Genetics. ...

Various single nucleotide polymorphisms (SNPs) of the TLR4 in humans have been identified and for some of them an association ... Schröder NW, Schumann RR (March 2005). "Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious ... The distribution of human TLR4 polymorphisms matches the out-of-Africa migration, and it is likely that the polymorphisms were ... February 2014). "Polymorphisms of the toll-like receptor 2 and 4 genes are associated with faster progression and a more severe ...

Single nucleotide polymorphisms (SNPs) with less than 20X depth should be masked. The mitochondrial genome, or mitogenome, is ... Genome skimming can also be used for variant calling, to examine single nucleotide polymorphisms across a species. Genome ... When targeting plastomes, it is suggested that a minimum final sequencing depth of 30X is achieved for single-copy regions to ... While nuclear genomes assembled using genome skims are extremely fragmented, some low-copy single-copy nuclear genes can be ...

Hanzawa Y, Sasaki T, Hiratsuka M, Ishikawa M, Mizugaki M (April 2007). "Three novel single nucleotide polymorphisms (SNPs) of ... Jang YJ, Cha EY, Kim WY, Park SW, Shon JH, Lee SS, Shin JG (June 2007). "CYP2S1 gene polymorphisms in a Korean population". ... "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). ...

1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. doi: ... Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism". Endocrinology. 162 (1): bqaa181. doi:10.1210/ ...