Product Details

SNP ID

rs699463

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.6:24544675 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CAGCAACTAAAGTGCTTGTTAGCCT[A/G]TGAGCCCTACAAACACCCACTCCCA

Phenotype

MIM: 610045 MIM: 609269

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ALDH5A1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2760183] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ALDH5A1

Gene Name

aldehyde dehydrogenase 5 family member A1

There are no transcripts associated with this gene.

Gene

KIAA0319

Gene Name

KIAA0319

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168374.1	4744	UTR 3			NP_001161846.1
NM_001168375.1	4744	UTR 3			NP_001161847.1
NM_001168376.1	4744	UTR 3			NP_001161848.1
NM_001168377.1	4744	UTR 3			NP_001161849.1
NM_001252328.1	4744	UTR 3			NP_001239257.1
NM_014809.3	4744	UTR 3			NP_055624.2
XM_011515025.2	4744	UTR 3			XP_011513327.1
XM_011515026.2	4744	UTR 3			XP_011513328.1
XM_017011541.1	4744	UTR 3			XP_016867030.1
XM_017011542.1	4744	Intron			XP_016867031.1
XM_017011543.1	4744	UTR 3			XP_016867032.1
XM_017011544.1	4744	UTR 3			XP_016867033.1
XM_017011545.1	4744	UTR 3			XP_016867034.1
XM_017011546.1	4744	Intron			XP_016867035.1
XM_017011547.1	4744	UTR 3			XP_016867036.1
XM_017011548.1	4744	UTR 3			XP_016867037.1
XM_017011549.1	4744	UTR 3			XP_016867038.1
XM_017011550.1	4744	Intron			XP_016867039.1
XM_017011551.1	4744	UTR 3			XP_016867040.1
XM_017011552.1	4744	UTR 3			XP_016867041.1
XM_017011553.1	4744	UTR 3			XP_016867042.1

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