Product Details

SNP ID
rs12035264
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:161124359 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCACATCTCTGTGTGTCAGATGA[A/G]TGCCCACGATGTCAAACATGCGGTG
Phenotype
MIM: 606841 MIM: 604618 MIM: 613466 MIM: 610554
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
DEDD PubMed Links

Gene Details

Gene
DEDD
Gene Name
death effector domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039711.1 250 Missense Mutation ACT,ATT T35I NP_001034800.1
NM_001039712.1 250 Missense Mutation ACT,ATT T35I NP_001034801.1
NM_032998.2 250 Missense Mutation ACT,ATT T35I NP_127491.1
XM_005245597.3 250 Missense Mutation ACT,ATT T35I XP_005245654.1
XM_005245598.4 250 Missense Mutation ACT,ATT T35I XP_005245655.1
XM_005245599.2 250 Missense Mutation ACT,ATT T35I XP_005245656.1
XM_005245600.2 250 Missense Mutation ACT,ATT T35I XP_005245657.1
XM_017002802.1 250 Missense Mutation ACT,ATT T35I XP_016858291.1
Gene
NIT1
Gene Name
nitrilase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185092.1 250 UTR 3 NP_001172021.1
NM_001185093.1 250 Intron NP_001172022.1
NM_001185094.1 250 Intron NP_001172023.1
NM_005600.2 250 Intron NP_005591.1
XM_005245214.2 250 Intron XP_005245271.1
XM_005245215.4 250 Intron XP_005245272.1
XM_005245216.3 250 Intron XP_005245273.1
XM_006711341.3 250 UTR 3 XP_006711404.1
XM_017001371.1 250 UTR 3 XP_016856860.1
Gene
PFDN2
Gene Name
prefoldin subunit 2
There are no transcripts associated with this gene.

Gene
UFC1
Gene Name
ubiquitin-fold modifier conjugating enzyme 1
There are no transcripts associated with this gene.

View Full Product Details