Product Details

SNP ID
rs201966770
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41209737 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCAATGGAGGAAGAGGAAGATGA[C/T]GACTTGGAGCTGTTTGGTGGCTATG
Phenotype
MIM: 616236 MIM: 611865
Polymorphism
C/T, 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_138481.1 237 Intron NP_612490.1
XM_005261370.3 237 UTR 3 XP_005261427.1
XM_011529932.2 237 UTR 3 XP_011528234.1
XM_011529933.2 237 Intron XP_011528235.1
XM_011529934.2 237 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_031488.4 237 Silent Mutation GAC,GAT D22D NP_113676.2
XM_011530420.2 237 Missense Mutation ACG,ATG T49M XP_011528722.1
XM_011530421.2 237 UTR 5 XP_011528723.1
XM_017028976.1 237 Missense Mutation GAC,GAT D22D XP_016884465.1
XM_017028977.1 237 Intron XP_016884466.1
XM_017028978.1 237 UTR 5 XP_016884467.1
XM_017028979.1 237 UTR 5 XP_016884468.1
XM_017028980.1 237 UTR 5 XP_016884469.1

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