Product Details

SNP ID
rs143759813
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7260647 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGGGTTCCCAGACTTACTTAAT[A/G]TTGGTAGGGATCAAAGGGTTATAAA
Phenotype
MIM: 609131 MIM: 610684 MIM: 615019
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CLDN7 PubMed Links

Gene Details

Gene
CLDN7
Gene Name
claudin 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185022.1 1370 Silent Mutation AAC,AAT N156N NP_001171951.1
NM_001185023.1 1370 Intron NP_001171952.1
NM_001307.5 1370 Silent Mutation AAC,AAT N156N 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 1370 Intron NP_056177.3
NM_203413.2 1370 Intron NP_981958.1
NM_203414.2 1370 Intron NP_981959.1
NM_203415.1 1370 Intron NP_981960.1
XM_011523779.2 1370 Intron XP_011522081.1

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