Product Details

SNP ID
rs201517941
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:9704754 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCGCCCCCACCTGCAGTGGTG[C/G]TGCTTTACACGCAGAGCCGGGCCAG
Phenotype
MIM: 611089
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CPNE9 PubMed Links

Gene Details

Gene
CPNE9
Gene Name
copine family member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308388.1 462 Missense Mutation CTG,GTG L39V NP_001295317.1
NM_153635.2 462 Missense Mutation CTG,GTG L39V NP_705899.2
XM_011533386.2 462 Missense Mutation CTG,GTG L148V XP_011531688.1
XM_011533388.2 462 Missense Mutation CTG,GTG L148V XP_011531690.1
XM_011533389.2 462 Missense Mutation CTG,GTG L148V XP_011531691.1
XM_017005747.1 462 UTR 5 XP_016861236.1
Gene
MTMR14
Gene Name
myotubularin related protein 14
There are no transcripts associated with this gene.

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