Product Details

SNP ID

rs201998729

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:176392878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGGGTTGAAGTCACATAGCTGGG[C/T]CACCTTCTCCCACTCTGTGCCTGGG

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	737	Intron			NP_001304877.1
NM_173664.5	737	Intron			NP_775935.1
XM_011534529.2	737	Intron			XP_011532831.1
XM_011534530.2	737	Intron			XP_011532832.1
XM_011534531.2	737	Intron			XP_011532833.1
XM_017009372.1	737	Intron			XP_016864861.1

Gene

CLTB

Gene Name

clathrin light chain B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001834.3	737	Missense Mutation	ACC,GCC	T178A	NP_001825.1
NM_007097.3	737	Missense Mutation	ACC,GCC	T196A	NP_009028.1
XM_017009026.1	737	Missense Mutation	ACC,GCC	T111A	XP_016864515.1
XM_017009027.1	737	Intron			XP_016864516.1

Gene

HIGD2A

Gene Name

HIG1 hypoxia inducible domain family member 2A

There are no transcripts associated with this gene.

Gene

NOP16

Gene Name

NOP16 nucleolar protein

There are no transcripts associated with this gene.

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