Product Details

SNP ID

rs2073440

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50242317 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCTGGAGTCCACATTGAGAGCTGCA[G/T]TCAGGAAAGCTGGGGACGCTGTAGA

Phenotype

MIM: 142704 MIM: 603247

Polymorphism

G/T, Transversion 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	2143	Missense Mutation	GAA,GAC	E611D	NP_001293075.1
NM_002112.3	2143	Missense Mutation	GAA,GAC	E644D	NP_002103.2
XM_017022094.1	2143	Missense Mutation	GAA,GAC	E679D	XP_016877583.1
XM_017022095.1	2143	Missense Mutation	GAA,GAC	E646D	XP_016877584.1
XM_017022096.1	2143	Missense Mutation	GAA,GAC	E603D	XP_016877585.1
XM_017022097.1	2143	Missense Mutation	GAA,GAC	E600D	XP_016877586.1
XM_017022098.1	2143	Missense Mutation	GAA,GAC	E535D	XP_016877587.1
XM_017022099.1	2143	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