Product Details

SNP ID
rs12831005
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:26122639 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCGCCGCCGCGCCGCCCCCCGG[A/G]CCGCCGCCGCTGCCGCCGCCGCGGG
Phenotype
MIM: 606200 MIM: 601599
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
BHLHE41 PubMed Links

Gene Details

Gene
BHLHE41
Gene Name
basic helix-loop-helix family member e41
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030762.2 1167 Silent Mutation GGC,GGT G292G NP_110389.1
Gene
SSPN
Gene Name
sarcospan
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135823.1 1167 Intron NP_001129295.1
NM_005086.4 1167 Intron NP_005077.2
XM_011520853.2 1167 Intron XP_011519155.1
XM_011520854.2 1167 Intron XP_011519156.1
XM_011520855.2 1167 Intron XP_011519157.1

View Full Product Details