Product Details

SNP ID

rs150308339

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:34757576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGCCTCTGGGCCCTGCAGCTTAT[A/C]CTGGTGACATGCCCCTCACTGCTCG

Phenotype

MIM: 605425 MIM: 604493

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GJB4 PubMed Links

Gene Details

Gene

GJB4

Gene Name

gap junction protein beta 4

There are no transcripts associated with this gene.

Gene

GJB5

Gene Name

gap junction protein beta 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005268.3	686	Silent Mutation	ATA,ATC	I82I	NP_005259.1
XM_005270751.3	686	Silent Mutation	ATA,ATC	I82I	XP_005270808.1

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