Product Details

SNP ID

rs148034853

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:87284575 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATAGGCCCCCATCCATTGTACCT[G/T]GGCTGACATAGAGTTTCTTTCTGTG

Phenotype

MIM: 611921

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GJB7 PubMed Links

Gene Details

Gene

GJB7

Gene Name

gap junction protein beta 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198568.2	684	Missense Mutation			NP_940970.1
XM_005248716.2	684	Missense Mutation			XP_005248773.1

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