Product Details

SNP ID
rs144153954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1506032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGGGCTCAGCCAGGACAGCGCC[A/G]GGCAGTCAGGCGTATGCGGCTGTCC
Phenotype
MIM: 609346
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADAMTSL5 PubMed Links

Gene Details

Gene
ADAMTSL5
Gene Name
ADAMTS like 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_213604.2 1706 Missense Mutation CGG,TGG R467W NP_998769.2
XM_005259549.3 1706 Missense Mutation CGG,TGG R477W XP_005259606.1
XM_011527961.1 1706 Missense Mutation CGG,TGG R481W XP_011526263.1
XM_011527963.1 1706 Missense Mutation CGG,TGG R236W XP_011526265.1
XM_017026744.1 1706 Missense Mutation CGG,TGG R471W XP_016882233.1
XM_017026745.1 1706 Missense Mutation CGG,TGG R467W XP_016882234.1
Gene
REEP6
Gene Name
receptor accessory protein 6
There are no transcripts associated with this gene.

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