Product Details

SNP ID

rs142931455

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:46477188 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGTGAAGACTCAATTTCTCATC[C/T]ACACTCTGCAGCAAGTCCCAGCCTG

Phenotype

MIM: 613072

Polymorphism

C/T, Transition 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	3749	Missense Mutation	AGA,GGA	R1114G	NP_001138944.1
NM_001145473.2	3749	Intron			NP_001138945.1
NM_001173129.1	3749	UTR 3			NP_001166600.1
NM_001308013.1	3749	UTR 3			NP_001294942.1
NM_144612.6	3749	Intron			NP_653213.6
XM_006722388.3	3749	Intron			XP_006722451.1
XM_006722389.3	3749	Intron			XP_006722452.1
XM_006722390.3	3749	Intron			XP_006722453.1
XM_006722391.3	3749	Intron			XP_006722454.1
XM_011525804.2	3749	Intron			XP_011524106.1
XM_011525807.2	3749	Intron			XP_011524109.1
XM_011525810.2	3749	Intron			XP_011524112.1
XM_011525811.2	3749	Intron			XP_011524113.1
XM_017025540.1	3749	Intron			XP_016881029.1
XM_017025541.1	3749	Missense Mutation	AGA,GGA	R1906G	XP_016881030.1
XM_017025542.1	3749	Intron			XP_016881031.1
XM_017025543.1	3749	Intron			XP_016881032.1
XM_017025544.1	3749	Intron			XP_016881033.1
XM_017025545.1	3749	Intron			XP_016881034.1
XM_017025546.1	3749	Intron			XP_016881035.1
XM_017025547.1	3749	Intron			XP_016881036.1
XM_017025548.1	3749	Intron			XP_016881037.1

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