Product Details

SNP ID
rs150194965
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41209805 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGCAGTGTGGGCAGTGAGAGCA[C/G]CTCCTATCTGGAGGAGTCAAGTGAA
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_138481.1 305 Intron NP_612490.1
XM_005261370.3 305 UTR 3 XP_005261427.1
XM_011529932.2 305 UTR 3 XP_011528234.1
XM_011529933.2 305 Intron XP_011528235.1
XM_011529934.2 305 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_031488.4 305 Missense Mutation ACC,AGC T45S NP_113676.2
XM_011530420.2 305 Missense Mutation CCT,GCT P72A XP_011528722.1
XM_011530421.2 305 UTR 5 XP_011528723.1
XM_017028976.1 305 Missense Mutation ACC,AGC T45S XP_016884465.1
XM_017028977.1 305 Intron XP_016884466.1
XM_017028978.1 305 UTR 5 XP_016884467.1
XM_017028979.1 305 UTR 5 XP_016884468.1
XM_017028980.1 305 UTR 5 XP_016884469.1

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