Product Details

SNP ID

rs201444798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:23298877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCAGATGCGGTGGCCGTCATAG[C/T]GGCTCCTGCATTTCATGATGTTGTT

Phenotype

MIM: 606663

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOXL2 PubMed Links

Gene Details

Gene

LOXL2

Gene Name

lysyl oxidase like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002318.2	2543	Missense Mutation	CAC,CGC	H735R	NP_002309.1

Gene

R3HCC1

Gene Name

R3H domain and coiled-coil containing 1

There are no transcripts associated with this gene.

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