Product Details

SNP ID

rs201880492

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24054409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCTCCCCCAGATCCTGGTGGAGA[C/T]GGAGCGTGGCATGGTGAGCATGCGA

Phenotype

MIM: 614716 MIM: 615195

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138360.3	15	Missense Mutation	ACG,ATG	T87M	NP_612369.3
XM_011537300.2	15	Missense Mutation	CGG,TGG	R20W	XP_011535602.1
XM_017021751.1	15	UTR 5			XP_016877240.1

Gene

DHRS4L1

Gene Name

dehydrogenase/reductase 4 like 1

There are no transcripts associated with this gene.

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