Product Details

SNP ID
rs143455680
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41209772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTTGGTGGCTATGATAGTTTCC[C/G]GAGTTATAACAGCAGTGTGGGCAGT
Phenotype
MIM: 616236 MIM: 611865
Polymorphism
C/G, Transversion 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_138481.1 272 Intron NP_612490.1
XM_005261370.3 272 UTR 3 XP_005261427.1
XM_011529932.2 272 UTR 3 XP_011528234.1
XM_011529933.2 272 Intron XP_011528235.1
XM_011529934.2 272 Intron 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_031488.4 272 Missense Mutation CCG,CGG P34R NP_113676.2
XM_011530420.2 272 Missense Mutation CGA,GGA R61G XP_011528722.1
XM_011530421.2 272 UTR 5 XP_011528723.1
XM_017028976.1 272 Missense Mutation CCG,CGG P34R XP_016884465.1
XM_017028977.1 272 Intron XP_016884466.1
XM_017028978.1 272 UTR 5 XP_016884467.1
XM_017028979.1 272 UTR 5 XP_016884468.1
XM_017028980.1 272 UTR 5 XP_016884469.1

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