Product Details

SNP ID

rs200073118

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:169084974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCCTGGCCATACTGTGCCACA[C/G]GTTGGAAGAACTGTGGGATGTAGAA

Phenotype

MIM: 165215

Polymorphism

C/G, Transversion 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	3356	Missense Mutation	CTG,GTG	L1096V	NP_001098547.3
NM_001105078.3	3356	Missense Mutation	CTG,GTG	L1031V	NP_001098548.2
NM_001163999.1	3356	Missense Mutation	CTG,GTG	L1023V	NP_001157471.1
NM_001164000.1	3356	Missense Mutation	CTG,GTG	L1022V	NP_001157472.1
NM_001205194.1	3356	Missense Mutation	CTG,GTG	L1031V	NP_001192123.1
NM_004991.3	3356	Missense Mutation	CTG,GTG	L1219V	NP_004982.2
NM_005241.3	3356	Missense Mutation	CTG,GTG	L1031V	NP_005232.2
XM_005247213.3	3356	Missense Mutation	CTG,GTG	L1220V	XP_005247270.1
XM_005247214.3	3356	Missense Mutation	CTG,GTG	L1211V	XP_005247271.1
XM_005247215.3	3356	Missense Mutation	CTG,GTG	L1210V	XP_005247272.1
XM_005247219.2	3356	Missense Mutation	CTG,GTG	L1032V	XP_005247276.1
XM_005247220.2	3356	Missense Mutation	CTG,GTG	L1032V	XP_005247277.1
XM_005247221.2	3356	Missense Mutation	CTG,GTG	L1032V	XP_005247278.1
XM_005247223.2	3356	Missense Mutation	CTG,GTG	L1031V	XP_005247280.1
XM_005247224.3	3356	Missense Mutation	CTG,GTG	L896V	XP_005247281.1
XM_005247225.3	3356	Missense Mutation	CTG,GTG	L895V	XP_005247282.1
XM_005247226.3	3356	Missense Mutation	CTG,GTG	L886V	XP_005247283.1
XM_011512546.2	3356	Missense Mutation	CTG,GTG	L1104V	XP_011510848.1
XM_017005874.1	3356	Missense Mutation	CTG,GTG	L1096V	XP_016861363.1
XM_017005875.1	3356	Missense Mutation	CTG,GTG	L1022V	XP_016861364.1
XM_017005876.1	3356	Missense Mutation	CTG,GTG	L1023V	XP_016861365.1
XM_017005877.1	3356	Missense Mutation	CTG,GTG	L887V	XP_016861366.1
XM_017005878.1	3356	Missense Mutation	CTG,GTG	L698V	XP_016861367.1

View Full Product Details