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CTTCTTCGTCACAGGAGACCGCGCC[A/G]GTGGCCGGAGCTGGTGCCTGCGGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611685 | ||||||||||||||||||||
Literature Links: |
RNF8 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 |
RNF8 - ring finger protein 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003958.3 | 233 | Missense Mutation | AGT,GGT | S,G 14 | NP_003949.1 | |
NM_183078.2 | 233 | Missense Mutation | AGT,GGT | S,G 14 | NP_898901.1 | |
XM_006715241.2 | 233 | Missense Mutation | AGT,GGT | S,G 14 | XP_006715304.1 | |
XM_006715242.2 | 233 | Missense Mutation | AGT,GGT | S,G 14 | XP_006715305.1 | |
XM_017011462.1 | 233 | Intron | XP_016866951.1 | |||
XM_017011463.1 | 233 | Intron | XP_016866952.1 | |||
XM_017011464.1 | 233 | UTR 5 | XP_016866953.1 |