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SNP ID

rs192813377

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:34761348 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCTGTCTGTGGTGTTCATCTTT[C/T]GTGTGCTGGTGTACGTGGTGGCAGC

Phenotype

MIM: 605425 MIM: 604493

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GJB4 PubMed Links

Gene Details

Gene

GJB4

Gene Name

gap junction protein beta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153212.2	752	Missense Mutation	CGT,TGT	R32C	NP_694944.1
XM_011540679.2	752	Missense Mutation	CGT,TGT	R32C	XP_011538981.1

Gene

GJB5

Gene Name

gap junction protein beta 5

There are no transcripts associated with this gene.

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