Product Details

SNP ID

rs141260031

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65171970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGTTTTGTCCAGGAATTCCTCT[C/T]CAAAGACCCCTGCTTCCAGATTTCA

Phenotype

MIM: 114220 MIM: 614030

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPN1 PubMed Links

Gene Details

Gene

CAPN1

Gene Name

calpain 1

There are no transcripts associated with this gene.

Gene

SPDYC

Gene Name

speedy/RINGO cell cycle regulator family member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008778.1	621	Missense Mutation	TCC,TTC	S76F	NP_001008778.1
XM_017017705.1	621	Missense Mutation	TCC,TTC	S57F	XP_016873194.1
XM_017017706.1	621	Missense Mutation	TCC,TTC	S57F	XP_016873195.1
XM_017017707.1	621	Missense Mutation	TCC,TTC	S57F	XP_016873196.1
XM_017017708.1	621	Missense Mutation	TCC,TTC	S57F	XP_016873197.1
XM_017017709.1	621	Missense Mutation	TCC,TTC	S57F	XP_016873198.1
XM_017017710.1	621	Missense Mutation	TCC,TTC	S57F	XP_016873199.1

View Full Product Details