Product Details

SNP ID
rs139051234
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219572489 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCAAGGTGAGGGCCCTGTTCTTG[A/G]ATGCCTTGGGGCCCCCCGCGGTGAC
Phenotype
MIM: 147380 MIM: 610991
Polymorphism
A/G, 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_002191.3 258 Missense Mutation AAT,GAT N39D NP_002182.1
Gene
OBSL1
Gene Name
obscurin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173408.1 258 Intron NP_001166879.1
NM_001173431.1 258 Intron NP_001166902.1
NM_015311.2 258 Intron NP_056126.1
XM_005246424.4 258 Intron XP_005246481.1
XM_005246427.4 258 Intron XP_005246484.1
XM_011510857.2 258 Intron XP_011509159.1
XM_011510863.2 258 Intron XP_011509165.1
XM_011510864.2 258 Intron XP_011509166.1
XM_011510865.2 258 Intron XP_011509167.1
XM_011510866.2 258 Intron XP_011509168.1
XM_017003696.1 258 Intron XP_016859185.1
XM_017003697.1 258 Intron XP_016859186.1
XM_017003698.1 258 Intron XP_016859187.1
XM_017003699.1 258 Intron XP_016859188.1
XM_017003700.1 258 Intron XP_016859189.1

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