Product Details

SNP ID

rs140008766

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:161122453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGGCGCTCAAGTGGGTCCTGCTT[A/G]TTAGAGAAGACATTGCCCTGCAGAG

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	887	Silent Mutation	AAC,AAT	N217N	NP_001034800.1
NM_001039712.1	887	Silent Mutation	AAC,AAT	N217N	NP_001034801.1
NM_032998.2	887	Silent Mutation	AAC,AAT	N217N	NP_127491.1
XM_005245597.3	887	Silent Mutation	AAC,AAT	N247N	XP_005245654.1
XM_005245598.4	887	Silent Mutation	AAC,AAT	N247N	XP_005245655.1
XM_005245599.2	887	Silent Mutation	AAC,AAT	N247N	XP_005245656.1
XM_005245600.2	887	Silent Mutation	AAC,AAT	N247N	XP_005245657.1
XM_017002802.1	887	Silent Mutation	AAC,AAT	N217N	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	887	Intron			NP_001172021.1
NM_001185093.1	887	Intron			NP_001172022.1
NM_001185094.1	887	Intron			NP_001172023.1
NM_005600.2	887	Intron			NP_005591.1
XM_005245214.2	887	Intron			XP_005245271.1
XM_005245215.4	887	Intron			XP_005245272.1
XM_005245216.3	887	Intron			XP_005245273.1
XM_006711341.3	887	Intron			XP_006711404.1
XM_017001371.1	887	Intron			XP_016856860.1

Gene

PFDN2

Gene Name

prefoldin subunit 2

There are no transcripts associated with this gene.

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