Product Details

SNP ID

rs202006590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27035657 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCATCCGAGGGCTGCTGGCGAAGG[C/T]AGCAGGGTCTCTGGAGCTCTTTTTT

Phenotype

MIM: 605788 MIM: 615301

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAPRE3 PubMed Links

Gene Details

Gene

MAPRE3

Gene Name

microtubule associated protein RP/EB family member 3

There are no transcripts associated with this gene.

Gene

TMEM214

Gene Name

transmembrane protein 214

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083590.1	649	Intron			NP_001077059.1
NM_017727.4	649	Missense Mutation	GCA,GTA	A189V	NP_060197.4
XM_005264381.3	649	Missense Mutation	GCA,GTA	A189V	XP_005264438.1
XM_005264382.3	649	Missense Mutation	GCA,GTA	A189V	XP_005264439.1
XM_005264383.3	649	Intron			XP_005264440.1

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