Product Details

SNP ID
rs138250620
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:50242811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAACCCGAGGGCTGGGTTGGGAAG[C/T]ACAGTGCTGACTCAGGATGAGAGTG
Phenotype
MIM: 142704 MIM: 603247
Polymorphism
C/T, 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 1649 Missense Mutation ACT,GCT T447A NP_001293075.1
NM_002112.3 1649 Missense Mutation ACT,GCT T480A NP_002103.2
XM_017022094.1 1649 Missense Mutation ACT,GCT T515A XP_016877583.1
XM_017022095.1 1649 Missense Mutation ACT,GCT T482A XP_016877584.1
XM_017022096.1 1649 Missense Mutation ACT,GCT T439A XP_016877585.1
XM_017022097.1 1649 Missense Mutation ACT,GCT T436A XP_016877586.1
XM_017022098.1 1649 Missense Mutation ACT,GCT T371A XP_016877587.1
XM_017022099.1 1649 Intron XP_016877588.1
Gene
SLC27A2
Gene Name
solute carrier family 27 member 2
There are no transcripts associated with this gene.

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