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GTCCCCTCCAGAATCTTTTGGCTCC[A/G]TGTTAGAAGACCCGGTCCATGCAGT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603449 MIM: 609213 | |||||||||||||||||||||||
Literature Links: |
RUVBL1 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 - 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 |
RUVBL1 - RuvB like AAA ATPase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319084.1 | 1244 | Intron | NP_001306013.1 | |||
NM_001319086.1 | 1244 | Intron | NP_001306015.1 | |||
NM_003707.2 | 1244 | Intron | NP_003698.1 | |||
XM_005247841.3 | 1244 | Intron | XP_005247898.1 | |||
XM_011513248.1 | 1244 | Intron | XP_011511550.1 | |||
XM_011513249.2 | 1244 | Intron | XP_011511551.1 | |||
XM_017007356.1 | 1244 | Intron | XP_016862845.1 | |||
XM_017007357.1 | 1244 | Intron | XP_016862846.1 |
RUVBL1-AS1 - RUVBL1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
SEC61A1 - Sec61 translocon alpha 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013336.3 | 1244 | Missense Mutation | ATG,GTG | M,V 354 | NP_037468.1 |