Product Details

SNP ID

rs17885718

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65183167 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCCCAGTTCATTGTGGATGGAGCT[G/A]CCCGCACAGACATCTGCCAGGGAGC

Phenotype

MIM: 114220 MIM: 614030

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

CAPN1 PubMed Links

Gene Details

Gene

CAPN1

Gene Name

calpain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198868.1	504	Missense Mutation	ACC,GCC	T103A	NP_001185797.1
NM_001198869.1	504	Missense Mutation	ACC,GCC	T103A	NP_001185798.1
NM_005186.3	504	Missense Mutation	ACC,GCC	T103A	NP_005177.2
XM_006718698.1	504	Missense Mutation	ACC,GCC	T103A	XP_006718761.1
XM_011545292.1	504	Missense Mutation	ACC,GCC	T103A	XP_011543594.1

Gene

SPDYC

Gene Name

speedy/RINGO cell cycle regulator family member C

There are no transcripts associated with this gene.

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