Product Details

SNP ID
rs199786838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:134838696 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCTGTGGAGATGAAAATTGACA[C/T]CCATAGTCATATTCTACCAAAAGAA
Phenotype
MIM: 608889
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACMSD PubMed Links

Gene Details

Gene
ACMSD
Gene Name
aminocarboxymuconate semialdehyde decarboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307983.1 378 UTR 5 NP_001294912.1
NM_138326.2 378 Missense Mutation ACC,ATC T5I NP_612199.2
XM_005263586.4 378 Missense Mutation ACC,ATC T5I XP_005263643.1
XM_005263588.4 378 UTR 5 XP_005263645.1
XM_005263589.4 378 UTR 5 XP_005263646.1
XM_005263590.4 378 Intron XP_005263647.1
XM_011510592.2 378 UTR 5 XP_011508894.1
XM_017003325.1 378 UTR 5 XP_016858814.1
XM_017003326.1 378 Intron XP_016858815.1

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