Product Details

SNP ID

rs201825977

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:169084949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACTGGATAGCACTGGATTCCGCC[A/G]CAGCCCTGGCCATACTGTGCCACAC

Phenotype

MIM: 165215

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MECOM PubMed Links

Gene Details

Gene

MECOM

Gene Name

MDS1 and EVI1 complex locus

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105077.3	3381	Missense Mutation	GCG,GTG	A1104V	NP_001098547.3
NM_001105078.3	3381	Missense Mutation	GCG,GTG	A1039V	NP_001098548.2
NM_001163999.1	3381	Missense Mutation	GCG,GTG	A1031V	NP_001157471.1
NM_001164000.1	3381	Missense Mutation	GCG,GTG	A1030V	NP_001157472.1
NM_001205194.1	3381	Missense Mutation	GCG,GTG	A1039V	NP_001192123.1
NM_004991.3	3381	Missense Mutation	GCG,GTG	A1227V	NP_004982.2
NM_005241.3	3381	Missense Mutation	GCG,GTG	A1039V	NP_005232.2
XM_005247213.3	3381	Missense Mutation	GCG,GTG	A1228V	XP_005247270.1
XM_005247214.3	3381	Missense Mutation	GCG,GTG	A1219V	XP_005247271.1
XM_005247215.3	3381	Missense Mutation	GCG,GTG	A1218V	XP_005247272.1
XM_005247219.2	3381	Missense Mutation	GCG,GTG	A1040V	XP_005247276.1
XM_005247220.2	3381	Missense Mutation	GCG,GTG	A1040V	XP_005247277.1
XM_005247221.2	3381	Missense Mutation	GCG,GTG	A1040V	XP_005247278.1
XM_005247223.2	3381	Missense Mutation	GCG,GTG	A1039V	XP_005247280.1
XM_005247224.3	3381	Missense Mutation	GCG,GTG	A904V	XP_005247281.1
XM_005247225.3	3381	Missense Mutation	GCG,GTG	A903V	XP_005247282.1
XM_005247226.3	3381	Missense Mutation	GCG,GTG	A894V	XP_005247283.1
XM_011512546.2	3381	Missense Mutation	GCG,GTG	A1112V	XP_011510848.1
XM_017005874.1	3381	Missense Mutation	GCG,GTG	A1104V	XP_016861363.1
XM_017005875.1	3381	Missense Mutation	GCG,GTG	A1030V	XP_016861364.1
XM_017005876.1	3381	Missense Mutation	GCG,GTG	A1031V	XP_016861365.1
XM_017005877.1	3381	Missense Mutation	GCG,GTG	A895V	XP_016861366.1
XM_017005878.1	3381	Missense Mutation	GCG,GTG	A706V	XP_016861367.1

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