Product Details

SNP ID
rs1129690
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:106900233 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACTCATCAAAAAGGCACCCCAAC[C/T]TTGCATGGATCTGCTGTTGGTATTC
Phenotype
MIM: 300520 MIM: 300575
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CLDN2 PubMed Links

Gene Details

Gene
CLDN2
Gene Name
claudin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171092.1 70 UTR 5 NP_001164563.1
NM_001171095.1 70 Intron NP_001164566.1
NM_020384.3 70 Intron NP_065117.1
Gene
RIPPLY1
Gene Name
ripply transcriptional repressor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171706.1 70 UTR 3 NP_001165177.1
NM_138382.2 70 UTR 3 NP_612391.1

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