Product Details

SNP ID

rs144104039

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:169085028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGACTCCTTGTCAGACAGTGACA[G/T]CATCATAGCATATGCCTGGGGTAAA

Phenotype

MIM: 165215

Polymorphism

G/T, 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	3302	Missense Mutation	ATG,CTG	M1078L	NP_001098547.3
NM_001105078.3	3302	Missense Mutation	ATG,CTG	M1013L	NP_001098548.2
NM_001163999.1	3302	Missense Mutation	ATG,CTG	M1005L	NP_001157471.1
NM_001164000.1	3302	Missense Mutation	ATG,CTG	M1004L	NP_001157472.1
NM_001205194.1	3302	Missense Mutation	ATG,CTG	M1013L	NP_001192123.1
NM_004991.3	3302	Missense Mutation	ATG,CTG	M1201L	NP_004982.2
NM_005241.3	3302	Missense Mutation	ATG,CTG	M1013L	NP_005232.2
XM_005247213.3	3302	Missense Mutation	ATG,CTG	M1202L	XP_005247270.1
XM_005247214.3	3302	Missense Mutation	ATG,CTG	M1193L	XP_005247271.1
XM_005247215.3	3302	Missense Mutation	ATG,CTG	M1192L	XP_005247272.1
XM_005247219.2	3302	Missense Mutation	ATG,CTG	M1014L	XP_005247276.1
XM_005247220.2	3302	Missense Mutation	ATG,CTG	M1014L	XP_005247277.1
XM_005247221.2	3302	Missense Mutation	ATG,CTG	M1014L	XP_005247278.1
XM_005247223.2	3302	Missense Mutation	ATG,CTG	M1013L	XP_005247280.1
XM_005247224.3	3302	Missense Mutation	ATG,CTG	M878L	XP_005247281.1
XM_005247225.3	3302	Missense Mutation	ATG,CTG	M877L	XP_005247282.1
XM_005247226.3	3302	Missense Mutation	ATG,CTG	M868L	XP_005247283.1
XM_011512546.2	3302	Missense Mutation	ATG,CTG	M1086L	XP_011510848.1
XM_017005874.1	3302	Missense Mutation	ATG,CTG	M1078L	XP_016861363.1
XM_017005875.1	3302	Missense Mutation	ATG,CTG	M1004L	XP_016861364.1
XM_017005876.1	3302	Missense Mutation	ATG,CTG	M1005L	XP_016861365.1
XM_017005877.1	3302	Missense Mutation	ATG,CTG	M869L	XP_016861366.1
XM_017005878.1	3302	Missense Mutation	ATG,CTG	M680L	XP_016861367.1

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