Product Details

SNP ID

rs138585940

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:34752582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATAGATTGACTTTCTCTTGGCCT[G/T]AGCCCCTCGCACAGCCAGCTTGATC

Phenotype

MIM: 607058

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GJD2 PubMed Links

Gene Details

Gene

GJD2

Gene Name

gap junction protein delta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020660.2	955	Missense Mutation	AAG,CAG	K288Q	NP_065711.1
XM_017022438.1	955	Missense Mutation	AAG,CAG	K237Q	XP_016877927.1

Gene

LOC101928174

Gene Name

uncharacterized LOC101928174

There are no transcripts associated with this gene.

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