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GCGATGAACAGCAGGGCTCACACTC[C/T]GGCATCTGAAGTTGCTGCTGGCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612660 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RFX7 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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RFX7 - regulatory factor X7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022841.5 | 4723 | Missense Mutation | NP_073752.5 | |||
XM_005254603.3 | 4723 | Missense Mutation | XP_005254660.2 | |||
XM_011521925.2 | 4723 | Missense Mutation | XP_011520227.1 | |||
XM_017022506.1 | 4723 | Missense Mutation | XP_016877995.1 | |||
XM_017022507.1 | 4723 | Missense Mutation | XP_016877996.1 | |||
XM_017022508.1 | 4723 | Missense Mutation | XP_016877997.1 |