Product Details

SNP ID
rs193042361
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:36170604 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCCGAGGGAGAAGCTTTGAGACC[A/G]GGGGCATGGCTGAAGGTAAATGAAT
Phenotype
MIM: 616066
Polymorphism
A/G, 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 1730 Missense Mutation CCG,CTG P472L 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 1730 Intron NP_001269076.1
NM_017826.2 1730 Missense Mutation CCG,CTG P395L NP_060296.2

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