Product Details

SNP ID

rs74140967

Assay Type

Functionally Tested

NCBI dbSNP Submissions

21

Location

Chr.1:228107822 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCGCCAGGAGGATGTGTGCAGG[C/T]GGCGGAGTGCAGGTCCGGTGGCCTT

Phenotype

MIM: 103180 MIM: 611859

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ARF1 PubMed Links

Additional Information

For this assay, SNP(s) [rs822730] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	471	Missense Mutation	CAC,CGC	H25R	NP_001308213.1
NM_181441.2	471	Missense Mutation	CAC,CGC	H25R	NP_852106.1
NM_181454.2	471	Missense Mutation	CAC,CGC	H25R	NP_852119.1
NM_181455.2	471	Missense Mutation	CAC,CGC	H25R	NP_852120.1
NM_181456.2	471	Missense Mutation	CAC,CGC	H25R	NP_852121.1
NM_181462.2	471	Missense Mutation	CAC,CGC	H61R	NP_852127.2
NM_181463.2	471	Missense Mutation	CAC,CGC	H25R	NP_852128.1
NM_181464.2	471	Missense Mutation	CAC,CGC	H25R	NP_852129.1
NM_181465.2	471	Missense Mutation	CAC,CGC	H25R	NP_852130.1
XM_005273059.3	471	Missense Mutation	CAC,CGC	H25R	XP_005273116.1
XM_005273061.4	471	Missense Mutation	CAC,CGC	H25R	XP_005273118.1
XM_005273062.3	471	Missense Mutation	CAC,CGC	H25R	XP_005273119.1
XM_005273063.4	471	Missense Mutation	CAC,CGC	H25R	XP_005273120.1
XM_011544094.2	471	Missense Mutation	CAC,CGC	H25R	XP_011542396.1
XM_011544095.2	471	Missense Mutation	CAC,CGC	H25R	XP_011542397.1

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