Product Details

SNP ID
rs140209477
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89577674 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGCATGGGCCCAGCGGCTTCAGC[A/T]GTCAGGAGGACGATTTCCTGGGGGG
Phenotype
MIM: 605689
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CPNE7 PubMed Links

Gene Details

Gene
CPNE7
Gene Name
copine 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014427.4 115 Missense Mutation AGT,TGT S104C NP_055242.1
NM_153636.2 115 Missense Mutation AGT,TGT S104C NP_705900.1
XM_011523000.1 115 Missense Mutation AGT,TGT S104C XP_011521302.1
XM_011523001.2 115 Silent Mutation GCA,GCT A7A XP_011521303.1
XM_017023138.1 115 Missense Mutation AGT,TGT S104C XP_016878627.1
XM_017023139.1 115 Missense Mutation AGT,TGT S108C XP_016878628.1
XM_017023140.1 115 Missense Mutation AGT,TGT S108C XP_016878629.1
XM_017023141.1 115 Intron XP_016878630.1

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