Product Details

SNP ID

rs104894401

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20189154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGAAGGCGGCTTCGAAGATGACC[T/C]GGAAGAAGATGCTGCTTGTGTAGGT

Phenotype

MIM: 121011

Polymorphism

T/C, 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	634	Missense Mutation	CAG,CGG	Q143R	NP_003995.2
XM_011535049.2	634	Missense Mutation	CAG,CGG	Q143R	XP_011533351.1

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