Product Details

SNP ID
rs144696055
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:36170721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTATGCAAGGAATTCAGAGACAGC[C/G]CTGCACTGGAAATGTGAGTTTTATA
Phenotype
MIM: 616066
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CCDC169-SOHLH2 PubMed Links

Gene Details

Gene
CCDC169-SOHLH2
Gene Name
CCDC169-SOHLH2 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198910.1 1613 Missense Mutation GCG,GGG A433G NP_001185839.1
Gene
SOHLH2
Gene Name
spermatogenesis and oogenesis specific basic helix-loop-helix 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282147.1 1613 Intron NP_001269076.1
NM_017826.2 1613 Missense Mutation GCG,GGG A356G NP_060296.2

View Full Product Details