Product Details

SNP ID

rs148553688

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:161122285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGGAGTCTGTGATGAAGACACC[C/T]TTAAGTGCCTCTAATAAAGAGCCAT

Phenotype

MIM: 606841 MIM: 604618 MIM: 613466

Polymorphism

C/T, 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	1055	Silent Mutation	AAA,AAG	K273K	NP_001034800.1
NM_001039712.1	1055	Silent Mutation	AAA,AAG	K273K	NP_001034801.1
NM_032998.2	1055	Silent Mutation	AAA,AAG	K273K	NP_127491.1
XM_005245597.3	1055	Silent Mutation	AAA,AAG	K303K	XP_005245654.1
XM_005245598.4	1055	Silent Mutation	AAA,AAG	K303K	XP_005245655.1
XM_005245599.2	1055	Silent Mutation	AAA,AAG	K303K	XP_005245656.1
XM_005245600.2	1055	Silent Mutation	AAA,AAG	K303K	XP_005245657.1
XM_017002802.1	1055	Silent Mutation	AAA,AAG	K273K	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	1055	Intron			NP_001172021.1
NM_001185093.1	1055	Intron			NP_001172022.1
NM_001185094.1	1055	Intron			NP_001172023.1
NM_005600.2	1055	Intron			NP_005591.1
XM_005245214.2	1055	Intron			XP_005245271.1
XM_005245215.4	1055	Intron			XP_005245272.1
XM_005245216.3	1055	Intron			XP_005245273.1
XM_006711341.3	1055	Intron			XP_006711404.1
XM_017001371.1	1055	Intron			XP_016856860.1

Gene

PFDN2

Gene Name

prefoldin subunit 2

There are no transcripts associated with this gene.

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