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ATCACTGGAACCATGACTACAAGAA[A/G]TTTTCATGCTTTCTAGGTCAGAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607119 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RNF19A 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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RNF19A - ring finger protein 19A, RBR E3 ubiquitin protein ligase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001280539.1 | 2395 | Missense Mutation | ACT,ATT | T,I 741 | NP_001267468.1 | |
NM_015435.4 | 2395 | Missense Mutation | ACT,ATT | T,I 741 | NP_056250.3 | |
NM_183419.3 | 2395 | Missense Mutation | ACT,ATT | T,I 741 | NP_904355.1 | |
XM_005250853.3 | 2395 | Missense Mutation | ACT,ATT | T,I 741 | XP_005250910.1 | |
XM_011516956.2 | 2395 | Missense Mutation | ACT,ATT | T,I 687 | XP_011515258.1 | |
XM_017013302.1 | 2395 | Missense Mutation | ACT,ATT | T,I 741 | XP_016868791.1 | |
XM_017013303.1 | 2395 | Missense Mutation | ACT,ATT | T,I 741 | XP_016868792.1 | |
XM_017013304.1 | 2395 | Missense Mutation | ACT,ATT | T,I 687 | XP_016868793.1 | |
XM_017013305.1 | 2395 | Missense Mutation | ACT,ATT | T,I 431 | XP_016868794.1 |