Product Details

SNP ID

rs6718730

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:30615988 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTACCTTGGAAATGGGTAGAGGGC[A/G]CTAGACAGAGGGAGAGTTGTGGTCT

Phenotype

MIM: 610228 MIM: 614241

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CAPN13 PubMed Links

Additional Information

For this assay, SNP(s) [rs77107692] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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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