Product Details

SNP ID
rs200871966
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53308287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCATCCTTGCCTCTCACCTTTC[A/G]TAAGCACAGCCAGACGTTCCCCACT
Phenotype
MIM: 605378 MIM: 611366 MIM: 604899
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
AAAS PubMed Links

Gene Details

Gene
AAAS
Gene Name
aladin WD repeat nucleoporin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173466.1 1339 Missense Mutation ACG,ATG T382M NP_001166937.1
NM_015665.5 1339 Missense Mutation ACG,ATG T415M NP_056480.1
XM_011538778.1 1339 Missense Mutation ACG,ATG T415M XP_011537080.1
XM_011538780.1 1339 Missense Mutation ACG,ATG T382M XP_011537082.1
Gene
C12orf10
Gene Name
chromosome 12 open reading frame 10
There are no transcripts associated with this gene.

Gene
PFDN5
Gene Name
prefoldin subunit 5
There are no transcripts associated with this gene.

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