Product Details

SNP ID
rs10188690
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:30615409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCAGTGAAATAGGATGAGAATG[A/G]AGGATAGTGAGGAAGTTATTGGAAG
Phenotype
MIM: 610228 MIM: 614241
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CAPN13 PubMed Links

Gene Details

Gene
CAPN13
Gene Name
calpain 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144575.2 Intron NP_653176.2
XM_011533159.2 Intron XP_011531461.1
XM_011533160.2 Intron XP_011531462.1
XM_011533161.2 Intron XP_011531463.1
XM_011533163.2 Intron XP_011531465.1
XM_017005264.1 Intron XP_016860753.1
XM_017005265.1 Intron XP_016860754.1
XM_017005266.1 Intron XP_016860755.1
Gene
LCLAT1
Gene Name
lysocardiolipin acyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002257.2 Intron NP_001002257.1
NM_001304445.1 Intron NP_001291374.1
NM_001304446.1 Intron NP_001291375.1
NM_182551.4 Intron NP_872357.2
XM_005264244.1 Intron XP_005264301.1
XM_005264245.3 Intron XP_005264302.1
XM_011532741.2 Intron XP_011531043.1
XM_011532742.2 Intron XP_011531044.1
XM_011532743.2 Intron XP_011531045.1
XM_011532744.2 Intron XP_011531046.1
XM_011532745.1 Intron XP_011531047.1
XM_017003746.1 Intron XP_016859235.1
XM_017003747.1 Intron XP_016859236.1

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