Product Details

SNP ID

rs200268233

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:95518194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAGACGAGGTATCAGCGTCTTCA[C/T]TGGGATGTTGGCTCCCCAACAGGAG

Phenotype

MIM: 601870 MIM: 610993

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

METAP2 PubMed Links

Gene Details

Gene

METAP2

Gene Name

methionyl aminopeptidase 2

There are no transcripts associated with this gene.

Gene

USP44

Gene Name

ubiquitin specific peptidase 44

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042403.2	2377	Missense Mutation	AAT,AGT	N700S	NP_001035862.1
NM_001278393.1	2377	Missense Mutation	AAT,AGT	N700S	NP_001265322.1
NM_032147.4	2377	Missense Mutation	AAT,AGT	N700S	NP_115523.2
XM_005269172.1	2377	Missense Mutation	AAT,AGT	N731S	XP_005269229.1
XM_005269173.1	2377	Missense Mutation	AAT,AGT	N731S	XP_005269230.1
XM_005269174.1	2377	Missense Mutation	AAT,AGT	N731S	XP_005269231.1
XM_011538800.2	2377	Missense Mutation	AAT,AGT	N731S	XP_011537102.1
XM_011538801.1	2377	Missense Mutation	AAT,AGT	N731S	XP_011537103.1
XM_011538802.1	2377	Missense Mutation	AAT,AGT	N731S	XP_011537104.1
XM_011538803.1	2377	Missense Mutation	AAT,AGT	N731S	XP_011537105.1
XM_011538804.2	2377	Missense Mutation	AAT,AGT	N731S	XP_011537106.1
XM_011538805.1	2377	Missense Mutation	AAT,AGT	N731S	XP_011537107.1
XM_011538806.2	2377	Intron			XP_011537108.1
XM_017020009.1	2377	Missense Mutation	AAT,AGT	N700S	XP_016875498.1
XM_017020010.1	2377	Missense Mutation	AAT,AGT	N700S	XP_016875499.1
XM_017020011.1	2377	Missense Mutation	AAT,AGT	N700S	XP_016875500.1
XM_017020012.1	2377	Intron			XP_016875501.1

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