Product Details

SNP ID
rs185429302
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27034099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGACCACAAGCACCCTTTATGAG[C/T]GGGGCTTTGAGAATATCATGAAGCG
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_001083590.1 267 Silent Mutation CGG,TGG R62W NP_001077059.1
NM_017727.4 267 Silent Mutation CGG,TGG R62W NP_060197.4
XM_005264381.3 267 Silent Mutation CGG,TGG R62W XP_005264438.1
XM_005264382.3 267 Silent Mutation CGG,TGG R62W XP_005264439.1
XM_005264383.3 267 Intron XP_005264440.1

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