Product Details

SNP ID

rs6985914

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:23290255 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCCACTGCTGGACCCTGTTGGCC[A/C]TGAGCCTCTGGGGCCTGAGAGTCAG

Phenotype

MIM: 606663

Polymorphism

A/C, Transversion 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	596	Missense Mutation	CAT,CCT	H213P	NP_001129580.2
NM_001301650.1	596	Missense Mutation	CAT,CCT	H171P	NP_001288579.1

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