Product Details

SNP ID
rs201970559
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24082474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTTGCTGACCACTCACCTGGAC[C/G]TGCTGGGCTCCTGTCTCCTCTGGGC
Phenotype
MIM: 605688 MIM: 162080
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CPNE6 PubMed Links

Gene Details

Gene
CPNE6
Gene Name
copine 6
There are no transcripts associated with this gene.

Gene
NRL
Gene Name
neural retina leucine zipper
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006177.3 694 Silent Mutation CAC,CAG H125Q NP_006168.1
XM_005267708.4 694 Missense Mutation CAC,CAG H125Q XP_005267765.1
XM_005267709.3 694 Missense Mutation CAC,CAG H125Q XP_005267766.1
XM_005267710.3 694 Missense Mutation CAC,CAG H125Q XP_005267767.1
XM_011536801.2 694 Missense Mutation CAC,CAG H227Q XP_011535103.2
XM_011536802.1 694 Missense Mutation CAC,CAG H125Q XP_011535104.1
XM_011536804.2 694 Missense Mutation CAC,CAG H125Q XP_011535106.1
XM_011536805.2 694 Missense Mutation CAC,CAG H125Q XP_011535107.1
XM_011536806.2 694 Intron XP_011535108.2
XM_017021350.1 694 Intron XP_016876839.1

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