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GATGGGACCGAAGTCATAGTTGACC[C/T]GCACGTTGGGCAGAGGGGGCACGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609948 | ||||||||||||||||||||
Literature Links: |
LOC107986762 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
LOC107986762 - uncharacterized LOC107986762 | ||||||
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There are no transcripts associated with this gene. |
RNF216 - ring finger protein 216 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207111.3 | 2682 | Missense Mutation | CAG,CGG | Q,R 895 | NP_996994.1 | |
NM_207116.2 | 2682 | Missense Mutation | CAG,CGG | Q,R 838 | NP_996999.1 | |
XM_005249785.2 | 2682 | Missense Mutation | CAG,CGG | Q,R 895 | XP_005249842.1 | |
XM_011515436.1 | 2682 | Missense Mutation | CAG,CGG | Q,R 460 | XP_011513738.1 | |
XM_017012363.1 | 2682 | Missense Mutation | CAG,CGG | Q,R 838 | XP_016867852.1 | |
XM_017012364.1 | 2682 | Intron | XP_016867853.1 | |||
XM_017012365.1 | 2682 | Missense Mutation | CAG,CGG | Q,R 460 | XP_016867854.1 |