Product Details

SNP ID
rs201638093
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27037090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATCCCCACAGGATGCATCCCAAC[C/T]TTACCAAGGGCTTCGGCATGATTGG
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 1005 Missense Mutation CTT,TTT L263F NP_001077059.1
NM_017727.4 1005 Missense Mutation CTT,TTT L308F NP_060197.4
XM_005264381.3 1005 Missense Mutation CTT,TTT L308F XP_005264438.1
XM_005264382.3 1005 Missense Mutation CTT,TTT L308F XP_005264439.1
XM_005264383.3 1005 Intron XP_005264440.1

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