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TGCCAGAAGCTTACCTGACAGGGTG[A/T]TGGAACTTGGATTCAGCCTTGGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300520 MIM: 300575 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLDN2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CLDN2 - claudin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171092.1 | 329 | Intron | NP_001164563.1 | |||
NM_001171095.1 | 329 | Intron | NP_001164566.1 | |||
NM_020384.3 | 329 | Intron | NP_065117.1 |
RIPPLY1 - ripply transcriptional repressor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171706.1 | 329 | Intron | NP_001165177.1 | |||
NM_138382.2 | 329 | Missense Mutation | CAA,CAT | Q,H 95 | NP_612391.1 |