Product Details

SNP ID
rs201041790
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:128064920 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATCATCGCACTTTTCCATCTGCT[A/G]GCCACACGCACAGACAAGGTCCGAG
Phenotype
MIM: 603449 MIM: 609213
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RUVBL1 PubMed Links

Gene Details

Gene
RUVBL1
Gene Name
RuvB like AAA ATPase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319084.1 1670 Intron NP_001306013.1
NM_001319086.1 1670 UTR 3 NP_001306015.1
NM_003707.2 1670 Intron NP_003698.1
XM_005247841.3 1670 Intron XP_005247898.1
XM_011513248.1 1670 Intron XP_011511550.1
XM_011513249.2 1670 UTR 3 XP_011511551.1
XM_017007356.1 1670 UTR 3 XP_016862845.1
XM_017007357.1 1670 UTR 3 XP_016862846.1
Gene
SEC61A1
Gene Name
Sec61 translocon alpha 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013336.3 1670 Silent Mutation CTA,CTG L220L NP_037468.1

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