Product Details

SNP ID

rs200620700

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:154228669 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATGTGTGATTGCTTTGCATGAC[G/T]GCAATGGAGATGTCAACAGAGCTAT

Phenotype

MIM: 616472

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

C1orf43 PubMed Links

Gene Details

Gene

C1orf43

Gene Name

chromosome 1 open reading frame 43

There are no transcripts associated with this gene.

Gene

UBAP2L

Gene Name

ubiquitin associated protein 2 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127320.2	390	Missense Mutation	GGC,TGC	G75C	NP_001120792.1
NM_001287815.1	390	Missense Mutation	GGC,TGC	G75C	NP_001274744.1
NM_001287816.1	390	Missense Mutation	GGC,TGC	G75C	NP_001274745.1
NM_014847.3	390	Missense Mutation	GGC,TGC	G75C	NP_055662.3
XM_005245658.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245715.1
XM_005245667.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245724.1
XM_005245668.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245725.1
XM_005245669.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245726.1
XM_005245670.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245727.1
XM_005245672.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245729.1
XM_005245673.3	390	Missense Mutation	GGC,TGC	G75C	XP_005245730.1
XM_005245674.1	390	Missense Mutation	GGC,TGC	G75C	XP_005245731.1
XM_011510215.2	390	Missense Mutation	GGC,TGC	G75C	XP_011508517.1
XM_011510216.1	390	Missense Mutation	GGC,TGC	G75C	XP_011508518.1
XM_017002972.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858461.1
XM_017002973.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858462.1
XM_017002974.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858463.1
XM_017002975.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858464.1
XM_017002976.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858465.1
XM_017002977.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858466.1
XM_017002978.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858467.1
XM_017002979.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858468.1
XM_017002980.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858469.1
XM_017002981.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858470.1
XM_017002982.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858471.1
XM_017002983.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858472.1
XM_017002984.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858473.1
XM_017002985.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858474.1
XM_017002986.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858475.1
XM_017002987.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858476.1
XM_017002988.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858477.1
XM_017002989.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858478.1
XM_017002990.1	390	Missense Mutation	GGC,TGC	G75C	XP_016858479.1
XM_017002991.1	390	UTR 5			XP_016858480.1

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