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SNP ID

rs78170344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:237973165 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATGGTCTCAAAGGGTCCCGGACG[C/G]CAGCCACAGCGTCCGACTCGACTCG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

UBE2F PubMed Links

Gene Details

Gene

UBE2F

Gene Name

ubiquitin conjugating enzyme E2 F (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278305.1	262	Missense Mutation	CCA,GCA	P20A	NP_001265234.1
NM_001278306.1	262	Intron			NP_001265235.1
NM_001278307.1	262	Missense Mutation	CCA,GCA	P20A	NP_001265236.1
NM_001278308.1	262	Missense Mutation	CCA,GCA	P20A	NP_001265237.1
NM_080678.2	262	Missense Mutation	CCA,GCA	P20A	NP_542409.1

Gene

UBE2F-SCLY

Gene Name

UBE2F-SCLY readthrough (NMD candidate)

There are no transcripts associated with this gene.

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