Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTTTCAGGGTAGGCCTCTCCTCAG[C/T]CGGGTGGTCGCTGACATCTTTCCCA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
PCDH19 - protocadherin 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105243.1 | 4611 | Missense Mutation | ACT,GCT | T,A 980 | NP_001098713.1 | |
NM_001184880.1 | 4611 | Missense Mutation | ACT,GCT | T,A 1027 | NP_001171809.1 | |
NM_020766.2 | 4611 | Missense Mutation | ACT,GCT | T,A 979 | NP_065817.2 | |
XM_011530997.2 | 4611 | Missense Mutation | ACT,GCT | T,A 1026 | XP_011529299.1 |