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SNP ID: rs147547132
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:37780763 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGCTTCTAAAATGTTTGCCAAAAT[C/T]AAAGTCTGCTGGATGGTTTTTGCCT
Phenotype: MIM: 606489
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: EXOSC3 PubMed Links

Gene Details

Gene: EXOSC3
Gene Name: exosome component 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002269.2	792	UTR 3			NP_001002269.1
NM_016042.3	792	Silent Mutation	TTA,TTG	L248L	NP_057126.2

Gene: LOC105376037
Gene Name: uncharacterized LOC105376037

There are no transcripts associated with this gene.

Gene: TRMT10B
Gene Name: tRNA methyltransferase 10B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286950.1	792	Intron			NP_001273879.1
NM_001286951.1	792	Intron			NP_001273880.1
NM_001286952.1	792	Intron			NP_001273881.1
NM_001286953.1	792	Intron			NP_001273882.1
NM_001286954.1	792	Intron			NP_001273883.1
NM_144964.3	792	Intron			NP_659401.2
XM_005251375.2	792	Intron			XP_005251432.1
XM_005251379.2	792	Intron			XP_005251436.1
XM_011517735.2	792	Intron			XP_011516037.1
XM_011517736.2	792	Intron			XP_011516038.1
XM_011517738.2	792	Intron			XP_011516040.1
XM_011517739.2	792	Intron			XP_011516041.1
XM_011517742.1	792	Intron			XP_011516044.1
XM_011517743.2	792	Intron			XP_011516045.1
XM_017014313.1	792	Intron			XP_016869802.1

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