Product Details

SNP ID

rs200348969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27035992 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGGAGTCACTACATGGTTACCG[C/G]ATCTGTATCCAGGCCATCCTGCAAG

Phenotype

MIM: 605788 MIM: 615301

Polymorphism

C/G, Transversion 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	743	Silent Mutation	CGC,CGG	R175R	NP_001077059.1
NM_017727.4	743	Silent Mutation	CGC,CGG	R220R	NP_060197.4
XM_005264381.3	743	Silent Mutation	CGC,CGG	R220R	XP_005264438.1
XM_005264382.3	743	Silent Mutation	CGC,CGG	R220R	XP_005264439.1
XM_005264383.3	743	Intron			XP_005264440.1

View Full Product Details