Product Details

SNP ID
rs9896695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7254798 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGCTGTGAGCCATCAGGACTCTT[C/G]TCCTGGTGAGACCCCTCCTTCATTG
Phenotype
MIM: 609131 MIM: 610684 MIM: 615019
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
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_015362.4 666 Missense Mutation TCT,TGT S151C NP_056177.3
NM_203413.2 666 Missense Mutation TCT,TGT S151C NP_981958.1
NM_203414.2 666 Missense Mutation TCT,TGT S151C NP_981959.1
NM_203415.1 666 Missense Mutation TCT,TGT S151C NP_981960.1
XM_011523779.2 666 Missense Mutation TCT,TGT S151C XP_011522081.1

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