Product Details

SNP ID

rs147648302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:34752536 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAAAATTGGGAACACTGACCCTT[A/G]GCAGGTCCTTGTTACGAATCTCATA

Phenotype

MIM: 607058

Polymorphism

A/G, Transition 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	1001	Missense Mutation	CCA,CTA	P303L	NP_065711.1
XM_017022438.1	1001	Missense Mutation	CCA,CTA	P252L	XP_016877927.1

Gene

LOC101928174

Gene Name

uncharacterized LOC101928174

There are no transcripts associated with this gene.

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