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TCGGGCAGCAGCAGAGGGTCCAGGC[C/T]GATAGGGCTGTGGGCTGCTGTTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
29 submissions
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Phenotype: |
MIM: 610036 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLDN19 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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CLDN19 - claudin 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001123395.1 | 790 | Missense Mutation | CAG,CGG | Q,R 200 | NP_001116867.1 | |
NM_001185117.1 | 790 | Missense Mutation | AGC,GGC | S,G 172 | NP_001172046.1 | |
NM_148960.2 | 790 | Missense Mutation | CAG,CGG | Q,R 200 | NP_683763.2 |