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SNP ID: rs201363121
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:128069494 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCCCAGGTACATCCCCACAGCCGC[A/G]GCCTTTGGTGGGCTGTGCATCGGGG
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	1447	Intron			NP_001306013.1
NM_001319086.1	1447	Intron			NP_001306015.1
NM_003707.2	1447	Intron			NP_003698.1
XM_005247841.3	1447	Intron			XP_005247898.1
XM_011513248.1	1447	Intron			XP_011511550.1
XM_011513249.2	1447	Intron			XP_011511551.1
XM_017007356.1	1447	Intron			XP_016862845.1
XM_017007357.1	1447	Intron			XP_016862846.1

Gene: RUVBL1-AS1
Gene Name: RUVBL1 antisense RNA 1

There are no transcripts associated with this gene.

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	1447	Silent Mutation	GCA,GCG	A421A	NP_037468.1

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