Product Details

SNP ID
rs200130634
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67646972 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAGACTTCAGCCACCTCGGCAGT[C/T]GGTGTGTGGCCTGCCAGGATGGGAG
Phenotype
MIM: 610859 MIM: 604167
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CARMIL2 PubMed Links

Gene Details

Gene
CARMIL2
Gene Name
capping protein regulator and myosin 1 linker 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013838.1 853 Missense Mutation CGG,TGG R204W NP_001013860.1
NM_001317026.1 853 Missense Mutation CGG,TGG R204W NP_001303955.1
XM_011522874.1 853 Missense Mutation CGG,TGG R204W XP_011521176.1
XM_011522875.2 853 Missense Mutation CGG,TGG R204W XP_011521177.2
XM_017022953.1 853 Missense Mutation CGG,TGG R204W XP_016878442.1
Gene
CTCF
Gene Name
CCCTC-binding factor
There are no transcripts associated with this gene.

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