Product Details

SNP ID

rs2133288

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15208757 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGATAAATTACCGGGGACAGAATTG[A/G]TAAATCAAAGGGTATGAGCTTCCAT

Phenotype

MIM: 606400 MIM: 612397

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CAPN7 PubMed Links

Gene Details

Gene

CAPN7

Gene Name

calpain 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014296.2		Intron			NP_055111.1
XM_011533555.2		Intron			XP_011531857.1
XM_011533556.2		Intron			XP_011531858.1
XM_011533557.2		Intron			XP_011531859.1
XM_017006043.1		Intron			XP_016861532.1
XM_017006044.1		Intron			XP_016861533.1
XM_017006045.1		Intron			XP_016861534.1

Gene

COL6A4P1

Gene Name

collagen type VI alpha 4 pseudogene 1

There are no transcripts associated with this gene.

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