Product Details

SNP ID

rs150690350

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:161122422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGATGGTGTTGGCCTGGTTAAAGC[A/G]CTCAAACTGGCGCTCAAGTGGGTCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039711.1	918	Missense Mutation	CGC,TGC	R228C	NP_001034800.1
NM_001039712.1	918	Missense Mutation	CGC,TGC	R228C	NP_001034801.1
NM_032998.2	918	Missense Mutation	CGC,TGC	R228C	NP_127491.1
XM_005245597.3	918	Missense Mutation	CGC,TGC	R258C	XP_005245654.1
XM_005245598.4	918	Missense Mutation	CGC,TGC	R258C	XP_005245655.1
XM_005245599.2	918	Missense Mutation	CGC,TGC	R258C	XP_005245656.1
XM_005245600.2	918	Missense Mutation	CGC,TGC	R258C	XP_005245657.1
XM_017002802.1	918	Missense Mutation	CGC,TGC	R228C	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	918	Intron			NP_001172021.1
NM_001185093.1	918	Intron			NP_001172022.1
NM_001185094.1	918	Intron			NP_001172023.1
NM_005600.2	918	Intron			NP_005591.1
XM_005245214.2	918	Intron			XP_005245271.1
XM_005245215.4	918	Intron			XP_005245272.1
XM_005245216.3	918	Intron			XP_005245273.1
XM_006711341.3	918	Intron			XP_006711404.1
XM_017001371.1	918	Intron			XP_016856860.1

Gene

PFDN2

Gene Name

prefoldin subunit 2

There are no transcripts associated with this gene.

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