Product Details

SNP ID
rs1746444
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.6:87330150 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TATTTTTAAGGTTTTCTGCCCCAAA[C/G]TTCAAGTTAGTTTCTTAAGTATTAA
Phenotype
MIM: 611921
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
GJB7 PubMed Links

Gene Details

Gene
GJB7
Gene Name
gap junction protein beta 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198568.2 Intron NP_940970.1
XM_005248716.2 Intron XP_005248773.1
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

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