Product Details

SNP ID

rs2759413

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24050918 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGCTCTGAAGATGCCAGCTAC[A/C]TCACTGGGGAAACAGTGATGGTGGG

Phenotype

MIM: 614716 MIM: 615195

Polymorphism

A/C, Transversion 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

DHRS4L1

Gene Name

dehydrogenase/reductase 4 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277864.1	974	Missense Mutation	ATC,CTC	I135L	NP_001264793.1
XM_006720246.3	974	Intron			XP_006720309.1

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