Product Details

SNP ID

rs199701954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:35607746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCCGTGTCTCACCTGCGGTTCT[C/G]GCTGATCCAGGGCGTGTGCGTCCTC

Phenotype

MIM: 611922

Polymorphism

C/G, 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	391	Missense Mutation	TCG,TGG	S78W	NP_699199.2

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