Product Details

SNP ID

rs138692254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:46692508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCTAGCTGTACAGTTTAGCTGT[A/G]TAGAAGCAGTGAACATGGCTTCAAA

Phenotype

MIM: 612147 MIM: 607213 MIM: 601501

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MYLK3 PubMed Links

Gene Details

Gene

MYLK3

Gene Name

myosin light chain kinase 3

There are no transcripts associated with this gene.

Gene

ORC6

Gene Name

origin recognition complex subunit 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014321.3	372	Missense Mutation	ATA,GTA	I108V	NP_055136.1
XM_011522978.2	372	Missense Mutation	ATA,GTA	I108V	XP_011521280.1

Gene

VPS35

Gene Name

VPS35 retromer complex component

There are no transcripts associated with this gene.

View Full Product Details