Product Details

SNP ID

rs9914481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7250530 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACAGGGACACCCAAACTTCAATG[C/G]TGGGCACAGCACCCACCTTGAACTC

Phenotype

MIM: 609131 MIM: 610684 MIM: 615019 MIM: 605125

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CLDN7 PubMed Links

Gene Details

Gene

CLDN7

Gene Name

claudin 7

There are no transcripts associated with this gene.

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		Intron			NP_001137247.1
NM_015343.4		Intron			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.

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