Product Details

SNP ID
rs5751066
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41209925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCGCTCCTTGGATGGCAGTGGTT[C/T]TGAGCCAGGTGCCTTCAGAGTGTCC
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_138481.1 425 Intron NP_612490.1
XM_005261370.3 425 UTR 3 XP_005261427.1
XM_011529932.2 425 UTR 3 XP_011528234.1
XM_011529933.2 425 Intron XP_011528235.1
XM_011529934.2 425 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_031488.4 425 Missense Mutation TCT,TTT S85F NP_113676.2
XM_011530420.2 425 Silent Mutation CTG,TTG L112L XP_011528722.1
XM_011530421.2 425 UTR 5 XP_011528723.1
XM_017028976.1 425 Missense Mutation TCT,TTT S85F XP_016884465.1
XM_017028977.1 425 Intron XP_016884466.1
XM_017028978.1 425 UTR 5 XP_016884467.1
XM_017028979.1 425 UTR 5 XP_016884468.1
XM_017028980.1 425 UTR 5 XP_016884469.1

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