Product Details

SNP ID

rs139189886

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7247289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACATACTTACCTAGCCGATTCC[A/G]GGACACAGGAGATAAGGGGAGGATA

Phenotype

MIM: 610684 MIM: 615019 MIM: 605125 MIM: 612910

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CTDNEP1 PubMed Links

Gene Details

Gene

CTDNEP1

Gene Name

CTD nuclear envelope phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143775.1	604	Intron			NP_001137247.1
NM_015343.4	604	Missense Mutation	CGG,TGG	R53W	NP_056158.2

Gene

ELP5

Gene Name

elongator acetyltransferase complex subunit 5

There are no transcripts associated with this gene.

Gene

GABARAP

Gene Name

GABA type A receptor-associated protein

There are no transcripts associated with this gene.

Gene

PHF23

Gene Name

PHD finger protein 23

There are no transcripts associated with this gene.

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