Product Details

SNP ID

rs200596637

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:228106798 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTCCAGAACTGTCGGTAGCGCT[C/T]CACATGCAAGTCATCACTGAGCTCC

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

MIR3620

Gene Name

microRNA 3620

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	746	Missense Mutation	AAG,GAG	K117E	NP_001308213.1
NM_181441.2	746	Missense Mutation	AAG,GAG	K117E	NP_852106.1
NM_181454.2	746	Missense Mutation	AAG,GAG	K117E	NP_852119.1
NM_181455.2	746	Missense Mutation	AAG,GAG	K117E	NP_852120.1
NM_181456.2	746	Missense Mutation	AAG,GAG	K117E	NP_852121.1
NM_181462.2	746	Missense Mutation	AAG,GAG	K153E	NP_852127.2
NM_181463.2	746	Missense Mutation	AAG,GAG	K117E	NP_852128.1
NM_181464.2	746	Missense Mutation	AAG,GAG	K117E	NP_852129.1
NM_181465.2	746	Missense Mutation	AAG,GAG	K117E	NP_852130.1
XM_005273059.3	746	Missense Mutation	AAG,GAG	K117E	XP_005273116.1
XM_005273061.4	746	Missense Mutation	AAG,GAG	K117E	XP_005273118.1
XM_005273062.3	746	Missense Mutation	AAG,GAG	K117E	XP_005273119.1
XM_005273063.4	746	Missense Mutation	AAG,GAG	K117E	XP_005273120.1
XM_011544094.2	746	Missense Mutation	AAG,GAG	K117E	XP_011542396.1
XM_011544095.2	746	Missense Mutation	AAG,GAG	K117E	XP_011542397.1

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