Product Details

SNP ID

rs77291864

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:228107712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTGTAGCGGATGTGGATGGTGG[A/G]GCCATCCTGCTTCACCAGCAGCACG

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	581	Missense Mutation	CCC,TCC	P62S	NP_001308213.1
NM_181441.2	581	Missense Mutation	CCC,TCC	P62S	NP_852106.1
NM_181454.2	581	Missense Mutation	CCC,TCC	P62S	NP_852119.1
NM_181455.2	581	Missense Mutation	CCC,TCC	P62S	NP_852120.1
NM_181456.2	581	Missense Mutation	CCC,TCC	P62S	NP_852121.1
NM_181462.2	581	Missense Mutation	CCC,TCC	P98S	NP_852127.2
NM_181463.2	581	Missense Mutation	CCC,TCC	P62S	NP_852128.1
NM_181464.2	581	Missense Mutation	CCC,TCC	P62S	NP_852129.1
NM_181465.2	581	Missense Mutation	CCC,TCC	P62S	NP_852130.1
XM_005273059.3	581	Missense Mutation	CCC,TCC	P62S	XP_005273116.1
XM_005273061.4	581	Missense Mutation	CCC,TCC	P62S	XP_005273118.1
XM_005273062.3	581	Missense Mutation	CCC,TCC	P62S	XP_005273119.1
XM_005273063.4	581	Missense Mutation	CCC,TCC	P62S	XP_005273120.1
XM_011544094.2	581	Missense Mutation	CCC,TCC	P62S	XP_011542396.1
XM_011544095.2	581	Missense Mutation	CCC,TCC	P62S	XP_011542397.1

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