Product Details

SNP ID
rs182632230
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24055310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGATTTCAGCCACTTGGAGAGCC[A/G]GTAAGCAGATGGGGCAGAGACTCCA
Phenotype
MIM: 614716 MIM: 615195
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CARMIL3 PubMed Links

Gene Details

Gene
CARMIL3
Gene Name
capping protein regulator and myosin 1 linker 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138360.3 322 Missense Mutation CAA,CGA Q202R NP_612369.3
XM_011537300.2 322 Missense Mutation CAA,CGA Q105R XP_011535602.1
XM_017021751.1 322 Missense Mutation CAA,CGA Q82R XP_016877240.1
Gene
DHRS4L1
Gene Name
dehydrogenase/reductase 4 like 1
There are no transcripts associated with this gene.

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