Product Details

SNP ID

rs150217043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20188932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTTTTTTGACTTCCCAGAACAA[C/T]ATCTAATTAGCAAATAACACAATTC

Phenotype

MIM: 121011

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GJB2 PubMed Links

Gene Details

Gene

GJB2

Gene Name

gap junction protein beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004004.5	856	Missense Mutation	TAT,TGT	Y217C	NP_003995.2
XM_011535049.2	856	Missense Mutation	TAT,TGT	Y217C	XP_011533351.1

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