Product Details

SNP ID
rs148195092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:50242402 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCATCATGTCTTCTGGAAACCTG[A/G]AAAAGATTCTGACCCTGGAGGAGCC
Phenotype
MIM: 142704 MIM: 603247
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HDC PubMed Links

Gene Details

Gene
HDC
Gene Name
histidine decarboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306146.1 2058 Missense Mutation TCC,TTC S583F NP_001293075.1
NM_002112.3 2058 Missense Mutation TCC,TTC S616F NP_002103.2
XM_017022094.1 2058 Missense Mutation TCC,TTC S651F XP_016877583.1
XM_017022095.1 2058 Missense Mutation TCC,TTC S618F XP_016877584.1
XM_017022096.1 2058 Missense Mutation TCC,TTC S575F XP_016877585.1
XM_017022097.1 2058 Missense Mutation TCC,TTC S572F XP_016877586.1
XM_017022098.1 2058 Missense Mutation TCC,TTC S507F XP_016877587.1
XM_017022099.1 2058 Intron XP_016877588.1
Gene
SLC27A2
Gene Name
solute carrier family 27 member 2
There are no transcripts associated with this gene.

View Full Product Details