Product Details

SNP ID
rs144698271
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:95974273 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGGGATTTTGGTGGATTTCTTGT[A/G]CAGAAATTGCAGTGAAAAGGCTGTT
Phenotype
MIM: 609457
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AMDHD1 PubMed Links

Gene Details

Gene
AMDHD1
Gene Name
amidohydrolase domain containing 1
There are no transcripts associated with this gene.

Gene
HAL
Gene Name
histidine ammonia-lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258333.1 2232 Missense Mutation CAC,TAC H437Y NP_001245262.1
NM_001258334.1 2232 UTR 3 NP_001245263.1
NM_002108.3 2232 Missense Mutation CAC,TAC H645Y NP_002099.1
XM_011538249.2 2232 Missense Mutation CAC,TAC H361Y XP_011536551.1
XM_017019246.1 2232 Missense Mutation CAC,TAC H335Y XP_016874735.1

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