Product Details

SNP ID

rs35265990

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:228107771 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTGCATAAGCCTGGCGGTGCACA[C/T]GAGTGAGTGAGGCCCTGCTGCTGTC

Phenotype

MIM: 103180 MIM: 611859

Polymorphism

C/T, 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	522	Missense Mutation	CAT,CGT	H42R	NP_001308213.1
NM_181441.2	522	Missense Mutation	CAT,CGT	H42R	NP_852106.1
NM_181454.2	522	Missense Mutation	CAT,CGT	H42R	NP_852119.1
NM_181455.2	522	Missense Mutation	CAT,CGT	H42R	NP_852120.1
NM_181456.2	522	Missense Mutation	CAT,CGT	H42R	NP_852121.1
NM_181462.2	522	Missense Mutation	CAT,CGT	H78R	NP_852127.2
NM_181463.2	522	Missense Mutation	CAT,CGT	H42R	NP_852128.1
NM_181464.2	522	Missense Mutation	CAT,CGT	H42R	NP_852129.1
NM_181465.2	522	Missense Mutation	CAT,CGT	H42R	NP_852130.1
XM_005273059.3	522	Missense Mutation	CAT,CGT	H42R	XP_005273116.1
XM_005273061.4	522	Missense Mutation	CAT,CGT	H42R	XP_005273118.1
XM_005273062.3	522	Missense Mutation	CAT,CGT	H42R	XP_005273119.1
XM_005273063.4	522	Missense Mutation	CAT,CGT	H42R	XP_005273120.1
XM_011544094.2	522	Missense Mutation	CAT,CGT	H42R	XP_011542396.1
XM_011544095.2	522	Missense Mutation	CAT,CGT	H42R	XP_011542397.1

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