Product Details

SNP ID

rs11546682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:23288582 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCTCAGCCGAGAATGACTTCGTCC[A/G]CCGGATCCAGGAGGAACTGGACCGC

Phenotype

MIM: 606663

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOXL2 PubMed Links

Gene Details

Gene

LOXL2

Gene Name

lysyl oxidase like 2

There are no transcripts associated with this gene.

Gene

R3HCC1

Gene Name

R3H domain and coiled-coil containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136108.2	143	Missense Mutation	CAC,CGC	H20R	NP_001129580.2
NM_001301650.1	143	Missense Mutation	CAC,CGC	H20R	NP_001288579.1

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