Product Details

SNP ID
rs2296968
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:36170773 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGATCACCAATAGCATTCTCTGAGG[C/T]GGAGCTTGATGGAACTTTAATGAGA
Phenotype
MIM: 616066
Polymorphism
C/T, Transition 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 1561 Missense Mutation ACC,GCC T416A 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 1561 Intron NP_001269076.1
NM_017826.2 1561 Missense Mutation ACC,GCC T339A NP_060296.2

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