Product Details

SNP ID

rs137976202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2537280 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCTCTTACAGCACGAGGCGGA[G/T]TGAAAGGGCGGGTGAAGAGCGGCTC

Phenotype

MIM: 606707

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TMC2 PubMed Links

Gene Details

Gene

TMC2

Gene Name

transmembrane channel like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080751.2	61	Missense Mutation	GTG,TTG	V16L	NP_542789.2
XM_005260660.3	61	Intron			XP_005260717.1

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