Product Details

SNP ID
rs71444488
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:31234840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGTACTCCACTGGGAAGACCAC[C/T]TTCATCAGGTGAGCCGGCCCAGGGT
Phenotype
MIM: 610229 MIM: 605891
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CAPN14 PubMed Links

Gene Details

Gene
CAPN14
Gene Name
calpain 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145122.1 827 Intron NP_001138594.1
NM_001321270.1 827 Intron NP_001308199.1
XM_011532863.2 827 Intron XP_011531165.1
XM_011532864.2 827 Intron XP_011531166.1
XM_011532865.1 827 Intron XP_011531167.1
XM_011532866.2 827 Intron XP_011531168.1
Gene
EHD3
Gene Name
EH domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014600.2 827 Silent Mutation ACC,ACT T73T NP_055415.1
XM_011532806.2 827 Intron XP_011531108.1

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