Product Details

SNP ID
rs188458744
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:161119612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTCACGTGCTGCTGAACAGCAAA[A/G]GTGAGACTTTATAACCCTTTAGCCT
Phenotype
MIM: 606841 MIM: 604618 MIM: 613466
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DEDD PubMed Links

Gene Details

Gene
DEDD
Gene Name
death effector domain containing
There are no transcripts associated with this gene.

Gene
NIT1
Gene Name
nitrilase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185092.1 563 Missense Mutation AGG,GGG R153G NP_001172021.1
NM_001185093.1 563 Missense Mutation AGG,GGG R138G NP_001172022.1
NM_001185094.1 563 Missense Mutation AGG,GGG R117G NP_001172023.1
NM_005600.2 563 Missense Mutation AGG,GGG R153G NP_005591.1
XM_005245214.2 563 Missense Mutation AGG,GGG R170G XP_005245271.1
XM_005245215.4 563 Missense Mutation AGG,GGG R170G XP_005245272.1
XM_005245216.3 563 Missense Mutation AGG,GGG R117G XP_005245273.1
XM_006711341.3 563 Missense Mutation AGG,GGG R170G XP_006711404.1
XM_017001371.1 563 Missense Mutation AGG,GGG R117G XP_016856860.1
Gene
PFDN2
Gene Name
prefoldin subunit 2
There are no transcripts associated with this gene.

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