Product Details

SNP ID

rs1530555

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:134842169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTTTCAGATTGTAGATGCTTCC[C/T]GGCATATGCTCAGACCAAAACCACT

Phenotype

MIM: 608889

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ACMSD PubMed Links

Additional Information

For this assay, SNP(s) [rs114342133] 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

ACMSD

Gene Name

aminocarboxymuconate semialdehyde decarboxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001307983.1		Intron			NP_001294912.1
NM_138326.2		Intron			NP_612199.2
XM_005263586.4		Intron			XP_005263643.1
XM_005263588.4		Intron			XP_005263645.1
XM_005263589.4		Intron			XP_005263646.1
XM_005263590.4		Intron			XP_005263647.1
XM_011510592.2		Intron			XP_011508894.1
XM_017003325.1		Intron			XP_016858814.1
XM_017003326.1		Intron			XP_016858815.1

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