Product Details

SNP ID

rs111033194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20188912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTGGGCAATGCGTTAAACTGGCT[T/G]TTTTGACTTCCCAGAACAATATCTA

Phenotype

MIM: 121011

Polymorphism

T/G, Transversion 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	876	Missense Mutation	AAG,CAG	K224Q	NP_003995.2
XM_011535049.2	876	Missense Mutation	AAG,CAG	K224Q	XP_011533351.1

View Full Product Details