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AAGTGCATGGGCAGGTTGTGCTCCA[C/G]GGGCATGTGGATGGGACCGAAGTCA
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 | |||
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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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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 | 2717 | Missense Mutation | CTG,GTG | L,V 907 | NP_996994.1 | |
NM_207116.2 | 2717 | Missense Mutation | CTG,GTG | L,V 850 | NP_996999.1 | |
XM_005249785.2 | 2717 | Missense Mutation | CTG,GTG | L,V 907 | XP_005249842.1 | |
XM_011515436.1 | 2717 | Missense Mutation | CTG,GTG | L,V 472 | XP_011513738.1 | |
XM_017012363.1 | 2717 | Missense Mutation | CTG,GTG | L,V 850 | XP_016867852.1 | |
XM_017012364.1 | 2717 | Intron | XP_016867853.1 | |||
XM_017012365.1 | 2717 | Missense Mutation | CTG,GTG | L,V 472 | XP_016867854.1 |