Product Details

SNP ID

rs201019782

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:176388299 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCAACCCCATCTCGGCCAGGTTC[C/T]GCCGTACCGATTTAGCGTGGTCCCA

Phenotype

MIM: 118970 MIM: 612861

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARL10 PubMed Links

Gene Details

Gene

ARL10

Gene Name

ADP ribosylation factor like GTPase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317948.1	540	Intron			NP_001304877.1
NM_173664.5	540	Intron			NP_775935.1
XM_011534529.2	540	Intron			XP_011532831.1
XM_011534530.2	540	Intron			XP_011532832.1
XM_011534531.2	540	Intron			XP_011532833.1
XM_017009372.1	540	Intron			XP_016864861.1

Gene

CLTB

Gene Name

clathrin light chain B

There are no transcripts associated with this gene.

Gene

HIGD2A

Gene Name

HIG1 hypoxia inducible domain family member 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138820.2	540	Intron			NP_620175.1

Gene

NOP16

Gene Name

NOP16 nucleolar protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256539.3	540	Missense Mutation	CAG,CGG	Q51R	NP_001243468.2
NM_001256540.3	540	Missense Mutation	CAG,CGG	Q51R	NP_001243469.2
NM_001291305.2	540	Missense Mutation	AGA,GGA	R27G	NP_001278234.1
NM_001291307.2	540	Missense Mutation	CAG,CGG	Q51R	NP_001278236.1
NM_001291308.2	540	Missense Mutation	CAG,CGG	Q51R	NP_001278237.1
NM_001317975.1	540	Missense Mutation	CAG,CGG	Q46R	NP_001304904.1
NM_016391.7	540	Missense Mutation	CAG,CGG	Q51R	NP_057475.2
XM_011534567.1	540	Missense Mutation	CAG,CGG	Q51R	XP_011532869.1

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