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AACCTTGCTCTCATCCACGCCGCCC[A/G]CGACACACTCAAGCTCATCCGGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614632 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UVSSA 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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UVSSA - UV stimulated scaffold protein A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317934.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | NP_001304863.1 | |
NM_001317935.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | NP_001304864.1 | |
NM_020894.3 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | NP_065945.2 | |
XM_017008490.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863979.1 | |
XM_017008491.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863980.1 | |
XM_017008492.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863981.1 | |
XM_017008493.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863982.1 | |
XM_017008494.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863983.1 | |
XM_017008495.1 | 1759 | Missense Mutation | CAC,CGC | H,R 234 | XP_016863984.1 | |
XM_017008496.1 | 1759 | Missense Mutation | CAC,CGC | H,R 439 | XP_016863985.1 | |
XM_017008497.1 | 1759 | Missense Mutation | CAC,CGC | H,R 439 | XP_016863986.1 | |
XM_017008498.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863987.1 | |
XM_017008499.1 | 1759 | Missense Mutation | CAC,CGC | H,R 330 | XP_016863988.1 | |
XM_017008500.1 | 1759 | Intron | XP_016863989.1 |