Product Details

SNP ID

rs1141244

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:161118822 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCAGGCCTCCTCACAGATTCCT[A/G]TCCCTTCTGTGTCCTGGACTCCGGA

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	145	Silent Mutation	CTA,CTG	L13L	NP_001172021.1
NM_001185093.1	145	Intron			NP_001172022.1
NM_001185094.1	145	UTR 5			NP_001172023.1
NM_005600.2	145	Silent Mutation	CTA,CTG	L13L	NP_005591.1
XM_005245214.2	145	Silent Mutation	CTA,CTG	L30L	XP_005245271.1
XM_005245215.4	145	Silent Mutation	CTA,CTG	L30L	XP_005245272.1
XM_005245216.3	145	UTR 5			XP_005245273.1
XM_006711341.3	145	Silent Mutation	CTA,CTG	L30L	XP_006711404.1
XM_017001371.1	145	UTR 5			XP_016856860.1

Gene

PFDN2

Gene Name

prefoldin subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012394.3	145	Intron			NP_036526.2
XM_011509624.2	145	Intron			XP_011507926.1

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