Product Details

SNP ID
rs150087974
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41209905 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTGCTCAGCCCTGGGACTCCTCG[C/T]TCCTTGGATGGCAGTGGTTCTGAGC
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_138481.1 405 Intron NP_612490.1
XM_005261370.3 405 UTR 3 XP_005261427.1
XM_011529932.2 405 UTR 3 XP_011528234.1
XM_011529933.2 405 Intron XP_011528235.1
XM_011529934.2 405 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_031488.4 405 Silent Mutation CGC,CGT R78R NP_113676.2
XM_011530420.2 405 Missense Mutation GCT,GTT A105V XP_011528722.1
XM_011530421.2 405 UTR 5 XP_011528723.1
XM_017028976.1 405 Silent Mutation CGC,CGT R78R XP_016884465.1
XM_017028977.1 405 Intron XP_016884466.1
XM_017028978.1 405 UTR 5 XP_016884467.1
XM_017028979.1 405 UTR 5 XP_016884468.1
XM_017028980.1 405 UTR 5 XP_016884469.1

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