Product Details

SNP ID

rs200338788

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:40411898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGATGGCGGCTCCTTGAAATCT[A/G]CTGAAATTTCTGCCAATCAATCAAG

Phenotype

MIM: 606078 MIM: 610440

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MKL1 PubMed Links

Gene Details

Gene

MKL1

Gene Name

megakaryoblastic leukemia (translocation) 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282660.1	2808	Missense Mutation	GCA,GTA	A763V	NP_001269589.1
NM_001282661.1	2808	Missense Mutation	GCA,GTA	A713V	NP_001269590.1
NM_001282662.1	2808	Silent Mutation	AGC,AGT	S766S	NP_001269591.1
NM_001318139.1	2808	Missense Mutation	GCA,GTA	A798V	NP_001305068.1
NM_020831.4	2808	Missense Mutation	GCA,GTA	A763V	NP_065882.1
XM_005261692.1	2808	Missense Mutation	GCA,GTA	A790V	XP_005261749.1
XM_005261694.1	2808	Missense Mutation	GCA,GTA	A763V	XP_005261751.1
XM_011530283.1	2808	Missense Mutation	GCA,GTA	A790V	XP_011528585.1
XM_011530285.1	2808	Missense Mutation	GCA,GTA	A722V	XP_011528587.1
XM_011530287.1	2808	Missense Mutation	GCA,GTA	A598V	XP_011528589.1
XM_017028888.1	2808	Missense Mutation	GCA,GTA	A790V	XP_016884377.1
XM_017028889.1	2808	Missense Mutation	GCA,GTA	A722V	XP_016884378.1

Gene

SGSM3

Gene Name

small G protein signaling modulator 3

There are no transcripts associated with this gene.

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