Product Details

SNP ID
rs143428110
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24073558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTGTCTTCTCCCGGGTGCTGGC[C/T]CTTGAGTATTTTTTTGAGGAGAAGC
Phenotype
MIM: 614716 MIM: 605688 MIM: 162080
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CARMIL3 PubMed Links

Gene Details

Gene
CARMIL3
Gene Name
capping protein regulator and myosin 1 linker 3
There are no transcripts associated with this gene.

Gene
CPNE6
Gene Name
copine 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001280558.1 483 Silent Mutation GCC,GCT A131A NP_001267487.1
NM_006032.3 483 Silent Mutation GCC,GCT A76A NP_006023.1
XM_005268216.1 483 Silent Mutation GCC,GCT A76A XP_005268273.1
XM_005268217.1 483 UTR 5 XP_005268274.1
Gene
NRL
Gene Name
neural retina leucine zipper
There are no transcripts associated with this gene.

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