Product Details

SNP ID
rs200043737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:38654052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTGGTTTCCACTTCTGTCAATAT[A/G]ATCCCTGAATGGCACAAACTAAAAC
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CPNE8 PubMed Links

Gene Details

Gene
CPNE8
Gene Name
copine 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153634.2 1555 Missense Mutation CAT,TAT H509Y NP_705898.1
XM_011537951.2 1555 Intron XP_011536253.1
XM_011537952.2 1555 Intron XP_011536254.1
XM_017018851.1 1555 Missense Mutation CAT,TAT H509Y XP_016874340.1
XM_017018852.1 1555 Missense Mutation CAT,TAT H348Y XP_016874341.1

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