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GTGTACTGCGTGGAGAGCGACCTGC[C/T]CGAGGCCCCCGCCTCGGAGCAGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602532 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RNF217 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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RNF217 - ring finger protein 217 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286398.2 | 656 | Missense Mutation | CCC,CTC | P,L 174 | NP_001273327.1 | |
NM_152553.4 | 656 | Intron | NP_689766.1 | |||
XM_011535494.2 | 656 | Missense Mutation | CCC,CTC | P,L 174 | XP_011533796.1 | |
XM_011535495.2 | 656 | Missense Mutation | CCC,CTC | P,L 174 | XP_011533797.1 | |
XM_011535496.2 | 656 | Missense Mutation | CCC,CTC | P,L 174 | XP_011533798.1 | |
XM_011535499.2 | 656 | Missense Mutation | CCC,CTC | P,L 174 | XP_011533801.1 | |
XM_011535500.2 | 656 | Intron | XP_011533802.1 | |||
XM_017010317.1 | 656 | Missense Mutation | CCC,CTC | P,L 174 | XP_016865806.1 |
RNF217-AS1 - RNF217 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |