Product Details

SNP ID

rs12802850

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:77132316 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGACATGAGGGACAGCCTTCATCC[C/T]ATTTCCCGTGGATCTTTCAGGATAG

Phenotype

MIM: 602537 MIM: 276903

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPN5 PubMed Links

Gene Details

Gene

CAPN5

Gene Name

calpain 5

There are no transcripts associated with this gene.

Gene

MYO7A

Gene Name

myosin VIIA

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000260.3		Intron			NP_000251.3
NM_001127179.2		Intron			NP_001120651.2
NM_001127180.1		Intron			NP_001120652.1
XM_011545044.2		Intron			XP_011543346.1
XM_011545046.2		Intron			XP_011543348.2
XM_011545050.2		Intron			XP_011543352.1
XM_017017778.1		Intron			XP_016873267.1
XM_017017779.1		Intron			XP_016873268.1
XM_017017780.1		Intron			XP_016873269.1
XM_017017781.1		Intron			XP_016873270.1
XM_017017782.1		Intron			XP_016873271.1
XM_017017783.1		Intron			XP_016873272.1
XM_017017784.1		Intron			XP_016873273.1
XM_017017785.1		Intron			XP_016873274.1
XM_017017786.1		Intron			XP_016873275.1
XM_017017787.1		Intron			XP_016873276.1
XM_017017788.1		Intron			XP_016873277.1

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