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ACCCGCTCGCTGTGTCGAGGGTCCA[G/T]GGTGAACCACAGGGCGATGGCACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 610036 MIM: 610339 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
P3H1 - prolyl 3-hydroxylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146289.1 | 2114 | Missense Mutation | ATG,CTG | M,L 678 | NP_001139761.1 | |
NM_001243246.1 | 2114 | Missense Mutation | ATG,CTG | M,L 678 | NP_001230175.1 | |
NM_022356.3 | 2114 | Missense Mutation | ATG,CTG | M,L 678 | NP_071751.3 | |
XM_005271110.2 | 2114 | Missense Mutation | ATG,CTG | M,L 342 | XP_005271167.1 | |
XM_011541948.1 | 2114 | Missense Mutation | ATG,CTG | M,L 353 | XP_011540250.1 | |
XM_017002051.1 | 2114 | Missense Mutation | ATG,CTG | M,L 353 | XP_016857540.1 | |
XM_017002052.1 | 2114 | Missense Mutation | ATG,CTG | M,L 352 | XP_016857541.1 |