Product Details

SNP ID

rs16963486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50242592 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGGCATCTGGGGCCTCTTCTGAAA[A/G]GCAGTCATCAACTGGGTCCAGCAGG

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	1868	Missense Mutation	CTT,TTT	L520F	NP_001293075.1
NM_002112.3	1868	Missense Mutation	CTT,TTT	L553F	NP_002103.2
XM_017022094.1	1868	Missense Mutation	CTT,TTT	L588F	XP_016877583.1
XM_017022095.1	1868	Missense Mutation	CTT,TTT	L555F	XP_016877584.1
XM_017022096.1	1868	Missense Mutation	CTT,TTT	L512F	XP_016877585.1
XM_017022097.1	1868	Missense Mutation	CTT,TTT	L509F	XP_016877586.1
XM_017022098.1	1868	Missense Mutation	CTT,TTT	L444F	XP_016877587.1
XM_017022099.1	1868	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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