Product Details

SNP ID

rs200198786

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:46477797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGTTGGCATCAGTGCCTGCCCCT[G/T]GCTCATAGCCTGTTGTCACGATGAC

Phenotype

MIM: 613072

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

LOXHD1 PubMed Links

Gene Details

Gene

LOXHD1

Gene Name

lipoxygenase homology domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145472.2	3117	Missense Mutation	CAA,CCA	Q1055P	NP_001138944.1
NM_001145473.2	3117	Missense Mutation	CAA,CCA	Q405P	NP_001138945.1
NM_001173129.1	3117	Missense Mutation	CAA,CCA	Q405P	NP_001166600.1
NM_001308013.1	3117	Missense Mutation	CAA,CCA	Q959P	NP_001294942.1
NM_144612.6	3117	Missense Mutation	CAA,CCA	Q2104P	NP_653213.6
XM_006722388.3	3117	Missense Mutation	CAA,CCA	Q1099P	XP_006722451.1
XM_006722389.3	3117	Missense Mutation	CAA,CCA	Q1055P	XP_006722452.1
XM_006722390.3	3117	Missense Mutation	CAA,CCA	Q1055P	XP_006722453.1
XM_006722391.3	3117	Missense Mutation	CAA,CCA	Q1037P	XP_006722454.1
XM_011525804.2	3117	Missense Mutation	CAA,CCA	Q1553P	XP_011524106.1
XM_011525807.2	3117	Missense Mutation	CAA,CCA	Q959P	XP_011524109.1
XM_011525810.2	3117	Missense Mutation	CAA,CCA	Q422P	XP_011524112.1
XM_011525811.2	3117	Missense Mutation	CAA,CCA	Q405P	XP_011524113.1
XM_017025540.1	3117	Missense Mutation	CAA,CCA	Q1818P	XP_016881029.1
XM_017025541.1	3117	Missense Mutation	CAA,CCA	Q1847P	XP_016881030.1
XM_017025542.1	3117	Intron			XP_016881031.1
XM_017025543.1	3117	Intron			XP_016881032.1
XM_017025544.1	3117	Intron			XP_016881033.1
XM_017025545.1	3117	Intron			XP_016881034.1
XM_017025546.1	3117	Intron			XP_016881035.1
XM_017025547.1	3117	Intron			XP_016881036.1
XM_017025548.1	3117	Missense Mutation	CAA,CCA	Q1960P	XP_016881037.1

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