Product Details

SNP ID
rs146730690
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41209791 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCCGGAGTTATAACAGCAGTGT[A/G]GGCAGTGAGAGCAGCTCCTATCTGG
Phenotype
MIM: 616236 MIM: 611865
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHADL PubMed Links

Gene Details

Gene
CHADL
Gene Name
chondroadherin like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138481.1 291 Intron NP_612490.1
XM_005261370.3 291 UTR 3 XP_005261427.1
XM_011529932.2 291 UTR 3 XP_011528234.1
XM_011529933.2 291 Intron XP_011528235.1
XM_011529934.2 291 UTR 3 XP_011528236.1
Gene
L3MBTL2
Gene Name
L3MBTL2 polycomb repressive complex 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031488.4 291 Silent Mutation GTA,GTG V40V NP_113676.2
XM_011530420.2 291 Nonsense Mutation TAG,TGG *67W XP_011528722.1
XM_011530421.2 291 UTR 5 XP_011528723.1
XM_017028976.1 291 Silent Mutation GTA,GTG V40V XP_016884465.1
XM_017028977.1 291 Intron XP_016884466.1
XM_017028978.1 291 UTR 5 XP_016884467.1
XM_017028979.1 291 UTR 5 XP_016884468.1
XM_017028980.1 291 UTR 5 XP_016884469.1

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