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GCCCTGAGGATGACTTGCTGGACGG[C/T]GTCTCAGACTCCTCCAGGCCACTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603626 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PCDH1 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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PCDH1 - protocadherin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278613.1 | 5682 | Intron | NP_001265542.1 | |||
NM_001278615.1 | 5682 | Intron | NP_001265544.1 | |||
NM_002587.4 | 5682 | Intron | NP_002578.2 | |||
NM_032420.3 | 5682 | Silent Mutation | ACA,ACG | T,T 1068 | NP_115796.2 | |
XM_005268452.2 | 5682 | Silent Mutation | ACA,ACG | T,T 1112 | XP_005268509.1 | |
XM_005268454.4 | 5682 | Silent Mutation | ACA,ACG | T,T 1112 | XP_005268511.1 | |
XM_005268455.2 | 5682 | Silent Mutation | ACA,ACG | T,T 689 | XP_005268512.1 | |
XM_017009517.1 | 5682 | Silent Mutation | ACA,ACG | T,T 689 | XP_016865006.1 | |
XM_017009518.1 | 5682 | Intron | XP_016865007.1 |