Product Details

SNP ID

rs822730

Assay Type

Functionally tested

NCBI dbSNP Submissions

37

Location

Chr.1:228107826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCAGGAGGATGTGTGCAGGCGGC[A/G]GAGTGCAGGTCCGGTGGCCTTCACG

Phenotype

MIM: 103180 MIM: 611859

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARF1 PubMed Links

Gene Details

Gene

ARF1

Gene Name

ADP ribosylation factor 1

There are no transcripts associated with this gene.

Gene

C1orf35

Gene Name

chromosome 1 open reading frame 35

There are no transcripts associated with this gene.

Gene

MRPL55

Gene Name

mitochondrial ribosomal protein L55

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321284.1	467	Missense Mutation	CGC,TGC	R24C	NP_001308213.1
NM_181441.2	467	Missense Mutation	CGC,TGC	R24C	NP_852106.1
NM_181454.2	467	Missense Mutation	CGC,TGC	R24C	NP_852119.1
NM_181455.2	467	Missense Mutation	CGC,TGC	R24C	NP_852120.1
NM_181456.2	467	Missense Mutation	CGC,TGC	R24C	NP_852121.1
NM_181462.2	467	Missense Mutation	CGC,TGC	R60C	NP_852127.2
NM_181463.2	467	Missense Mutation	CGC,TGC	R24C	NP_852128.1
NM_181464.2	467	Missense Mutation	CGC,TGC	R24C	NP_852129.1
NM_181465.2	467	Missense Mutation	CGC,TGC	R24C	NP_852130.1
XM_005273059.3	467	Missense Mutation	CGC,TGC	R24C	XP_005273116.1
XM_005273061.4	467	Missense Mutation	CGC,TGC	R24C	XP_005273118.1
XM_005273062.3	467	Missense Mutation	CGC,TGC	R24C	XP_005273119.1
XM_005273063.4	467	Missense Mutation	CGC,TGC	R24C	XP_005273120.1
XM_011544094.2	467	Missense Mutation	CGC,TGC	R24C	XP_011542396.1
XM_011544095.2	467	Missense Mutation	CGC,TGC	R24C	XP_011542397.1

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