NM_139075.3(TPCN2):c.2201G>A (p.Gly734Glu) AND Skin/hair/eye pigmentation, variation in, 10

Clinical significance:association (Last evaluated: May 18, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000000764.2

Allele description [Variation Report for NM_139075.3(TPCN2):c.2201G>A (p.Gly734Glu)]

NM_139075.3(TPCN2):c.2201G>A (p.Gly734Glu)

Gene:
TPCN2:two pore segment channel 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_139075.3(TPCN2):c.2201G>A (p.Gly734Glu)
HGVS:
  • NC_000011.10:g.69087895G>A
  • NG_016153.1:g.44014G>A
  • NM_139075.3:c.2201G>A
  • NP_620714.2:p.Gly734Glu
  • NC_000011.9:g.68855363G>A
  • Q8NHX9:p.Gly734Glu
Protein change:
G734E; GLY734GLU
Links:
UniProtKB: Q8NHX9#VAR_030494; OMIM: 612163.0002; dbSNP: rs3829241
NCBI 1000 Genomes Browser:
rs3829241
Molecular consequence:
  • NM_139075.3:c.2201G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Skin/hair/eye pigmentation, variation in, 10 (SHEP10)
Synonyms:
SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
Identifiers:
MedGen: C2677088; OMIM: 612267

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000020914OMIMno assertion criteria providedassociation
(May 18, 2015)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Two newly identified genetic determinants of pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Jakobsdottir M, Steinberg S, Gudjonsson SA, Palsson A, Thorleifsson G, Pálsson S, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Vermeulen SH, Goldstein AM, Tucker MA, Kiemeney LA, Olafsson JH, Gulcher J, et al.

Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160. Epub 2008 May 18.

PubMed [citation]
PMID:
18488028

Details of each submission

From OMIM, SCV000020914.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a large genomewide association study involving Icelandic and Dutch individuals to find variants associated with human pigmentation (SHEP10; 612267), Sulem et al. (2008) found that an G-to-A transition in the TPCN2 gene (rs3829241), resulting in a gly734-to-glu amino acid substitution (G734E), was significantly associated with blond rather than brown hair (P = 6.2 x 10(-16)). The rs3829241A allele occurred at a frequency of 44% in the population studied.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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