Product Details

SNP ID

rs146789470

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:31234704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGTGAGTGAGGGGCTCAAGAAAC[A/T]CTACAAGAGCAAGCTGCTGCCCTTG

Phenotype

MIM: 610229 MIM: 605891

Polymorphism

A/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	691	Intron			NP_001138594.1
NM_001321270.1	691	Intron			NP_001308199.1
XM_011532863.2	691	Intron			XP_011531165.1
XM_011532864.2	691	Intron			XP_011531166.1
XM_011532865.1	691	Intron			XP_011531167.1
XM_011532866.2	691	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	691	Missense Mutation	CAC,CTC	H28L	NP_055415.1
XM_011532806.2	691	Intron			XP_011531108.1

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