Product Details

SNP ID
rs201544475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15206542 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGACGCTGTGCAGTTCGCCCGTC[G/T]GGCGGTTCAGCGCGACCACGAAGGC
Phenotype
MIM: 606400 MIM: 612397
Polymorphism
G/T, Transversion 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_014296.2 235 Missense Mutation CGG,CTG R16L NP_055111.1
XM_011533555.2 235 Missense Mutation CGG,CTG R16L XP_011531857.1
XM_011533556.2 235 UTR 5 XP_011531858.1
XM_011533557.2 235 Missense Mutation CGG,CTG R16L XP_011531859.1
XM_017006043.1 235 UTR 5 XP_016861532.1
XM_017006044.1 235 Missense Mutation CGG,CTG R16L XP_016861533.1
XM_017006045.1 235 UTR 5 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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