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GTGGGCTCCTGGCAGAACTCATCCA[C/T]GAACTCGAGGAAGTGGCCGAACTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609788 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RNF169 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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RNF169 - ring finger protein 169 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098638.1 | 2402 | Intron | NP_001092108.1 | |||
XM_011544889.2 | 2402 | Intron | XP_011543191.1 |
XRRA1 - X-ray radiation resistance associated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270380.1 | 2402 | UTR 3 | NP_001257309.1 | |||
NM_001270381.1 | 2402 | Missense Mutation | ATG,GTG | M,V 503 | NP_001257310.1 | |
NM_182969.2 | 2402 | Missense Mutation | ATG,GTG | M,V 778 | NP_892014.1 | |
XM_005273765.2 | 2402 | Missense Mutation | ATG,GTG | M,V 786 | XP_005273822.1 | |
XM_005273770.2 | 2402 | Missense Mutation | ATG,GTG | M,V 545 | XP_005273827.1 | |
XM_011544755.1 | 2402 | Missense Mutation | ATG,GTG | M,V 771 | XP_011543057.1 | |
XM_011544756.1 | 2402 | Missense Mutation | ATG,GTG | M,V 744 | XP_011543058.1 | |
XM_011544757.1 | 2402 | Missense Mutation | ATG,GTG | M,V 729 | XP_011543059.1 | |
XM_011544758.1 | 2402 | Missense Mutation | ATG,GTG | M,V 729 | XP_011543060.1 | |
XM_011544759.1 | 2402 | Missense Mutation | ATG,GTG | M,V 721 | XP_011543061.1 | |
XM_011544760.2 | 2402 | Intron | XP_011543062.1 | |||
XM_011544761.1 | 2402 | Missense Mutation | ATG,GTG | M,V 705 | XP_011543063.1 | |
XM_011544762.1 | 2402 | Missense Mutation | ATG,GTG | M,V 699 | XP_011543064.1 | |
XM_011544763.1 | 2402 | UTR 3 | XP_011543065.1 | |||
XM_011544764.1 | 2402 | Missense Mutation | ATG,GTG | M,V 674 | XP_011543066.1 | |
XM_011544765.1 | 2402 | Missense Mutation | ATG,GTG | M,V 545 | XP_011543067.1 | |
XM_011544766.2 | 2402 | Missense Mutation | ATG,GTG | M,V 623 | XP_011543068.1 | |
XM_011544767.1 | 2402 | Missense Mutation | ATG,GTG | M,V 623 | XP_011543069.1 | |
XM_011544768.1 | 2402 | Missense Mutation | ATG,GTG | M,V 623 | XP_011543070.1 | |
XM_017017221.1 | 2402 | Missense Mutation | ATG,GTG | M,V 716 | XP_016872710.1 | |
XM_017017222.1 | 2402 | UTR 3 | XP_016872711.1 | |||
XM_017017223.1 | 2402 | UTR 3 | XP_016872712.1 | |||
XM_017017224.1 | 2402 | UTR 3 | XP_016872713.1 | |||
XM_017017225.1 | 2402 | UTR 3 | XP_016872714.1 | |||
XM_017017226.1 | 2402 | Missense Mutation | ATG,GTG | M,V 545 | XP_016872715.1 | |
XM_017017227.1 | 2402 | Missense Mutation | ATG,GTG | M,V 545 | XP_016872716.1 | |
XM_017017228.1 | 2402 | UTR 3 | XP_016872717.1 | |||
XM_017017229.1 | 2402 | Missense Mutation | ATG,GTG | M,V 488 | XP_016872718.1 | |
XM_017017230.1 | 2402 | Missense Mutation | ATG,GTG | M,V 466 | XP_016872719.1 | |
XM_017017231.1 | 2402 | Missense Mutation | ATG,GTG | M,V 458 | XP_016872720.1 | |
XM_017017232.1 | 2402 | UTR 3 | XP_016872721.1 | |||
XM_017017233.1 | 2402 | Missense Mutation | ATG,GTG | M,V 401 | XP_016872722.1 | |
XM_017017234.1 | 2402 | Missense Mutation | ATG,GTG | M,V 401 | XP_016872723.1 |