Product Details

SNP ID
rs146542764
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:19258181 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAGCTCCGGAGAAGGGTACAGGT[C/T]GCAGCGGCTTCAGGAAGAACACGCG
Phenotype
MIM: 600826 MIM: 606563
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HAPLN4 PubMed Links

Gene Details

Gene
HAPLN4
Gene Name
hyaluronan and proteoglycan link protein 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_023002.2 900 Missense Mutation CAA,CGA Q282R NP_075378.1
Gene
NCAN
Gene Name
neurocan
There are no transcripts associated with this gene.

Gene
TM6SF2
Gene Name
transmembrane 6 superfamily member 2
There are no transcripts associated with this gene.

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