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ACGCTGTTGACCTTGGGGCTGCAGA[A/T]GGTCACATCGACAGTCCTCTTGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300460 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PCDH19 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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PCDH19 - protocadherin 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105243.1 | 4659 | Missense Mutation | ATC,TTC | I,F 996 | NP_001098713.1 | |
NM_001184880.1 | 4659 | Missense Mutation | ATC,TTC | I,F 1043 | NP_001171809.1 | |
NM_020766.2 | 4659 | Missense Mutation | ATC,TTC | I,F 995 | NP_065817.2 | |
XM_011530997.2 | 4659 | Missense Mutation | ATC,TTC | I,F 1042 | XP_011529299.1 |