Product Details

SNP ID

rs139860099

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:31234753 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGAGCATTACCGCTTCCACGA[G/T]TTCCACTCGCCCGCCCTGGAGGATG

Phenotype

MIM: 610229 MIM: 605891

Polymorphism

G/T, Transversion 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	740	Intron			NP_001138594.1
NM_001321270.1	740	Intron			NP_001308199.1
XM_011532863.2	740	Intron			XP_011531165.1
XM_011532864.2	740	Intron			XP_011531166.1
XM_011532865.1	740	Intron			XP_011531167.1
XM_011532866.2	740	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	740	Missense Mutation	GAG,GAT	E44D	NP_055415.1
XM_011532806.2	740	Intron			XP_011531108.1

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