Product Details

SNP ID

rs116500690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:23297193 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACACAGACACGTTTCATAAATCTT[G/T]CTTTTATTCCAAGTTTCAAGTATGT

Phenotype

MIM: 606663

Polymorphism

G/T, Transversion 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	3514	UTR 3			NP_002309.1

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	3514	Intron			NP_001129580.2
NM_001301650.1	3514	Intron			NP_001288579.1

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