Product Details

SNP ID

rs17040913

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15256320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGTCTCCTATAGAAATACAAGG[A/G]TTATCAAAAGTGAGTATTGACAATT

Phenotype

MIM: 606400 MIM: 605612

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CAPN7 PubMed Links

Additional Information

For this assay, SNP(s) [rs116552208] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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		Intron			NP_001018009.2
NM_004844.4		Intron			NP_004835.2
XM_011534251.2		Intron			XP_011532553.1
XM_011534253.1		Intron			XP_011532555.1
XM_017007521.1		Intron			XP_016863010.1
XM_017007522.1		Intron			XP_016863011.1
XM_017007523.1		Intron			XP_016863012.1
XM_017007524.1		Intron			XP_016863013.1
XM_017007525.1		Intron			XP_016863014.1

Gene

SH3BP5-AS1

Gene Name

SH3BP5 antisense RNA 1

There are no transcripts associated with this gene.

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