Product Details

SNP ID
rs187214894
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27035228 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTTGAAGGACCTGGCCAGCTAT[C/G]TCAACTACAAGCTACAAGCTCCTCT
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_001083590.1 528 Missense Mutation CTC,GTC L149V NP_001077059.1
NM_017727.4 528 Missense Mutation CTC,GTC L149V NP_060197.4
XM_005264381.3 528 Missense Mutation CTC,GTC L149V XP_005264438.1
XM_005264382.3 528 Missense Mutation CTC,GTC L149V XP_005264439.1
XM_005264383.3 528 Intron XP_005264440.1

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