Product Details

SNP ID

rs143291536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15256942 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACATCATCCCAAACTCTGACAGG[A/G]ACACAGGGCTGGGCAGATCCAGGCT

Phenotype

MIM: 606400 MIM: 605612

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CAPN7 PubMed Links

Gene Details

Gene

CAPN7

Gene Name

calpain 7

There are no transcripts associated with this gene.

Gene

SH3BP5

Gene Name

SH3 domain binding protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018009.3	944	Missense Mutation	TCC,TTC	S197F	NP_001018009.2
NM_004844.4	944	Missense Mutation	TCC,TTC	S354F	NP_004835.2
XM_011534251.2	944	Missense Mutation	TCC,TTC	S314F	XP_011532553.1
XM_011534253.1	944	Intron			XP_011532555.1
XM_017007521.1	944	Missense Mutation	TCC,TTC	S341F	XP_016863010.1
XM_017007522.1	944	Missense Mutation	TCC,TTC	S197F	XP_016863011.1
XM_017007523.1	944	Missense Mutation	TCC,TTC	S197F	XP_016863012.1
XM_017007524.1	944	Missense Mutation	TCC,TTC	S197F	XP_016863013.1
XM_017007525.1	944	Missense Mutation	TCC,TTC	S197F	XP_016863014.1

Gene

SH3BP5-AS1

Gene Name

SH3BP5 antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details