Product Details

SNP ID

rs147983384

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:87332828 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTTATCTAATGCCTCAGTTTCA[C/T]GTAGTGGCACACTCTGAGGCTGAGA

Phenotype

MIM: 611921

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GJB7 PubMed Links

Gene Details

Gene

GJB7

Gene Name

gap junction protein beta 7

There are no transcripts associated with this gene.

Gene

SMIM8

Gene Name

small integral membrane protein 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042493.2		Intron			NP_001035958.1
NM_001287445.1		Intron			NP_001274374.1
NM_020425.5		Intron			NP_065158.3

View Full Product Details