Product Details

SNP ID
rs145240592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219572439 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGTGGGCACAGCTGCCAGGGGC[C/T]GGAGCTGGCCCGGGAACTTGTTCTG
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_002191.3 208 Missense Mutation CCG,CTG P22L NP_002182.1
Gene
OBSL1
Gene Name
obscurin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173408.1 208 Intron NP_001166879.1
NM_001173431.1 208 Intron NP_001166902.1
NM_015311.2 208 Intron NP_056126.1
XM_005246424.4 208 Intron XP_005246481.1
XM_005246427.4 208 Intron XP_005246484.1
XM_011510857.2 208 Intron XP_011509159.1
XM_011510863.2 208 Intron XP_011509165.1
XM_011510864.2 208 Intron XP_011509166.1
XM_011510865.2 208 Intron XP_011509167.1
XM_011510866.2 208 Intron XP_011509168.1
XM_017003696.1 208 Intron XP_016859185.1
XM_017003697.1 208 Intron XP_016859186.1
XM_017003698.1 208 Intron XP_016859187.1
XM_017003699.1 208 Intron XP_016859188.1
XM_017003700.1 208 Intron XP_016859189.1

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