Product Details

SNP ID
rs199544141
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219572450 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTGCCAGGGGCTGGAGCTGGCC[C/T]GGGAACTTGTTCTGGCCAAGGTGAG
Phenotype
MIM: 147380 MIM: 610991
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
INHA PubMed Links

Gene Details

Gene
INHA
Gene Name
inhibin alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002191.3 219 Missense Mutation CGG,TGG R26W NP_002182.1
Gene
OBSL1
Gene Name
obscurin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173408.1 219 Intron NP_001166879.1
NM_001173431.1 219 Intron NP_001166902.1
NM_015311.2 219 Intron NP_056126.1
XM_005246424.4 219 Intron XP_005246481.1
XM_005246427.4 219 Intron XP_005246484.1
XM_011510857.2 219 Intron XP_011509159.1
XM_011510863.2 219 Intron XP_011509165.1
XM_011510864.2 219 Intron XP_011509166.1
XM_011510865.2 219 Intron XP_011509167.1
XM_011510866.2 219 Intron XP_011509168.1
XM_017003696.1 219 Intron XP_016859185.1
XM_017003697.1 219 Intron XP_016859186.1
XM_017003698.1 219 Intron XP_016859187.1
XM_017003699.1 219 Intron XP_016859188.1
XM_017003700.1 219 Intron XP_016859189.1

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