Product Details

SNP ID

rs74124643

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:161123063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCTGCTCCATCTCTGGAACCCTT[A/G]AACTTCCTCACCACATGTCTGCTTC

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	738	Intron			NP_001034800.1
NM_001039712.1	738	Intron			NP_001034801.1
NM_032998.2	738	Intron			NP_127491.1
XM_005245597.3	738	Nonsense Mutation	CAA,TAA	Q198*	XP_005245654.1
XM_005245598.4	738	Nonsense Mutation	CAA,TAA	Q198*	XP_005245655.1
XM_005245599.2	738	Nonsense Mutation	CAA,TAA	Q198*	XP_005245656.1
XM_005245600.2	738	Nonsense Mutation	CAA,TAA	Q198*	XP_005245657.1
XM_017002802.1	738	Intron			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	738	Intron			NP_001172021.1
NM_001185093.1	738	Intron			NP_001172022.1
NM_001185094.1	738	Intron			NP_001172023.1
NM_005600.2	738	Intron			NP_005591.1
XM_005245214.2	738	Intron			XP_005245271.1
XM_005245215.4	738	Intron			XP_005245272.1
XM_005245216.3	738	Intron			XP_005245273.1
XM_006711341.3	738	Intron			XP_006711404.1
XM_017001371.1	738	Intron			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.

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