Product Details

SNP ID

rs2044245

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:31173197 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGATCATCATTTATAAAATCAACAA[C/T]ATCTCATGTATCTGGCACTTTATGG

Phenotype

MIM: 610229

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CAPN14 PubMed Links

Additional Information

For this assay, SNP(s) [rs78464756] are located under a probe and SNP(s) [rs115756369] are located under a primer 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

CAPN14

Gene Name

calpain 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145122.1	3783	UTR 3			NP_001138594.1
NM_001321270.1	3783	UTR 3			NP_001308199.1
XM_011532863.2	3783	UTR 3			XP_011531165.1
XM_011532864.2	3783	UTR 3			XP_011531166.1
XM_011532865.1	3783	UTR 3			XP_011531167.1
XM_011532866.2	3783	UTR 3			XP_011531168.1

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