Product Details

SNP ID

rs147032111

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:35607829 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCGAGGAGCCACGCTCGCCGCG[A/C]TGGGCCCCCGCCGCTGCCCCGACCC

Phenotype

MIM: 611922

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GJD4 PubMed Links

Gene Details

Gene

GJD4

Gene Name

gap junction protein delta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153368.2	474	Missense Mutation	ATG,CTG	M106L	NP_699199.2

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