Product Details

SNP ID

rs41307262

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.X:100987547 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

AACACAGGCTCTGGAGAAAGATGCT[C/T]ATCACACAGGTACTGAGATGCCGCT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARL13A PubMed Links

Gene Details

Gene

ARL13A

Gene Name

ADP ribosylation factor like GTPase 13A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162491.1	1457	Missense Mutation	TCA,TTA	S215L	NP_001155963.1
XM_011530950.2	1457	Missense Mutation	TCA,TTA	S215L	XP_011529252.1
XM_011530951.2	1457	Intron			XP_011529253.1

Gene

TRMT2B

Gene Name

tRNA methyltransferase 2 homolog B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167970.1	1457	Intron			NP_001161442.1
NM_001167971.1	1457	Intron			NP_001161443.1
NM_001167972.1	1457	Intron			NP_001161444.1
NM_024917.5	1457	Intron			NP_079193.2
XM_005262195.2	1457	Intron			XP_005262252.1
XM_005262196.2	1457	Intron			XP_005262253.1
XM_005262201.2	1457	Intron			XP_005262258.1
XM_006724705.2	1457	Intron			XP_006724768.1
XM_011531042.2	1457	Intron			XP_011529344.1
XM_011531044.2	1457	Intron			XP_011529346.1
XM_017029858.1	1457	Intron			XP_016885347.1
XM_017029859.1	1457	Intron			XP_016885348.1
XM_017029860.1	1457	Intron			XP_016885349.1
XM_017029861.1	1457	Intron			XP_016885350.1
XM_017029862.1	1457	Intron			XP_016885351.1
XM_017029863.1	1457	Intron			XP_016885352.1
XM_017029864.1	1457	Intron			XP_016885353.1
XM_017029865.1	1457	Intron			XP_016885354.1
XM_017029866.1	1457	Intron			XP_016885355.1
XM_017029867.1	1457	Intron			XP_016885356.1
XM_017029868.1	1457	Intron			XP_016885357.1
XM_017029869.1	1457	Intron			XP_016885358.1
XM_017029870.1	1457	Intron			XP_016885359.1
XM_017029871.1	1457	Intron			XP_016885360.1
XM_017029872.1	1457	Intron			XP_016885361.1
XM_017029873.1	1457	Intron			XP_016885362.1
XM_017029874.1	1457	Intron			XP_016885363.1
XM_017029875.1	1457	Intron			XP_016885364.1

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