Product Details

SNP ID

rs139088043

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7260394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGTCACACATACTCCTTGGAAG[A/G]GTTGGACTTAGGGTAAGAGCGGGGT

Phenotype

MIM: 609131 MIM: 610684 MIM: 615019

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CLDN7 PubMed Links

Additional Information

For this assay, SNP(s) [rs3744400] are located under a probe and SNP(s) [rs4562] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CLDN7

Gene Name

claudin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001185022.1	1518	Missense Mutation	CCT,TCT	P206S	NP_001171951.1
NM_001185023.1	1518	UTR 3			NP_001171952.1
NM_001307.5	1518	Missense Mutation	CCT,TCT	P206S	NP_001298.3

Gene

CTDNEP1

Gene Name

CTD nuclear envelope phosphatase 1

There are no transcripts associated with this gene.

Gene

ELP5

Gene Name

elongator acetyltransferase complex subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015362.4	1518	Intron			NP_056177.3
NM_203413.2	1518	Intron			NP_981958.1
NM_203414.2	1518	Intron			NP_981959.1
NM_203415.1	1518	Intron			NP_981960.1
XM_011523779.2	1518	Intron			XP_011522081.1

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