Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGGGAGCCACGGCGCTGCCGTGCC[C/T]GGAATTCCACCAGCTCTGAAGAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606839 MIM: 605047 MIM: 611780 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CDHR5 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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CDHR5 - cadherin related family member 5 | ||||||
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There are no transcripts associated with this gene. |
IRF7 - interferon regulatory factor 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001572.3 | 1702 | Missense Mutation | CAG,CGG | Q,R 418 | NP_001563.2 | |
NM_004029.2 | 1702 | Missense Mutation | CAG,CGG | Q,R 389 | NP_004020.1 | |
NM_004031.2 | 1702 | Missense Mutation | CAG,CGG | Q,R 431 | NP_004022.2 | |
XM_005252906.3 | 1702 | Missense Mutation | CAG,CGG | Q,R 431 | XP_005252963.1 | |
XM_005252907.3 | 1702 | Missense Mutation | CAG,CGG | Q,R 430 | XP_005252964.1 | |
XM_005252909.3 | 1702 | Missense Mutation | CAG,CGG | Q,R 402 | XP_005252966.1 | |
XM_011520066.2 | 1702 | Missense Mutation | CAG,CGG | Q,R 417 | XP_011518368.1 | |
XM_017017674.1 | 1702 | Missense Mutation | CAG,CGG | Q,R 125 | XP_016873163.1 |
PHRF1 - PHD and ring finger domains 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286581.1 | 1702 | Intron | NP_001273510.1 | |||
NM_001286582.1 | 1702 | Intron | NP_001273511.1 | |||
NM_001286583.1 | 1702 | Intron | NP_001273512.1 | |||
NM_020901.3 | 1702 | Intron | NP_065952.2 | |||
XM_005253025.4 | 1702 | Intron | XP_005253082.1 | |||
XM_005253027.3 | 1702 | Intron | XP_005253084.1 | |||
XM_011520236.2 | 1702 | Intron | XP_011518538.1 | |||
XM_011520237.2 | 1702 | Intron | XP_011518539.1 |