Product Details

SNP ID
rs200830508
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:96006349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTGTGCTAAAAACTCATTCAATT[A/G]ATGAGAAGAGAGATCCTTCAGGTCT
Phenotype
MIM: 609457 MIM: 151570
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HAL PubMed Links

Gene Details

Gene
HAL
Gene Name
histidine ammonia-lyase
There are no transcripts associated with this gene.

Gene
LTA4H
Gene Name
leukotriene A4 hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000895.2 1627 Nonsense Mutation CAA,TAA Q499* NP_000886.1
NM_001256643.1 1627 Nonsense Mutation CAA,TAA Q475* NP_001243572.1
NM_001256644.1 1627 Nonsense Mutation CAA,TAA Q475* NP_001243573.1
XM_005268871.1 1627 Nonsense Mutation CAA,TAA Q499* XP_005268928.1
XM_011538348.1 1627 Nonsense Mutation CAA,TAA Q499* XP_011536650.1
XM_011538349.2 1627 Intron XP_011536651.1

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