Product Details

SNP ID

rs2166669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:30611498 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCCAGCCGTATCCTCTTTATTTTC[A/G]GGTTTCTAAGAGTTGTTAACTGTTC

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	2705	Intron			NP_653176.2
XM_011533159.2	2705	Intron			XP_011531461.1
XM_011533160.2	2705	Intron			XP_011531462.1
XM_011533161.2	2705	Intron			XP_011531463.1
XM_011533163.2	2705	Intron			XP_011531465.1
XM_017005264.1	2705	Intron			XP_016860753.1
XM_017005265.1	2705	UTR 3			XP_016860754.1
XM_017005266.1	2705	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	2705	Intron			NP_001002257.1
NM_001304445.1	2705	Intron			NP_001291374.1
NM_001304446.1	2705	Intron			NP_001291375.1
NM_182551.4	2705	Intron			NP_872357.2
XM_005264244.1	2705	Intron			XP_005264301.1
XM_005264245.3	2705	Intron			XP_005264302.1
XM_011532741.2	2705	Intron			XP_011531043.1
XM_011532742.2	2705	Intron			XP_011531044.1
XM_011532743.2	2705	Intron			XP_011531045.1
XM_011532744.2	2705	Intron			XP_011531046.1
XM_011532745.1	2705	Intron			XP_011531047.1
XM_017003746.1	2705	Intron			XP_016859235.1
XM_017003747.1	2705	Intron			XP_016859236.1

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