Product Details

SNP ID
rs201847904
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:70891966 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCCAGGCGGCCTGCTTGGTCTC[A/C]CTCCTCTCCCCTCTTAGGTGCCGGG
Phenotype
MIM: 612538
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LRRC49 PubMed Links

Gene Details

Gene
LRRC49
Gene Name
leucine rich repeat containing 49
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199017.2 468 Intron NP_001185946.1
NM_001199018.2 468 Intron NP_001185947.1
NM_001284357.1 468 Intron NP_001271286.1
NM_017691.4 468 Intron NP_060161.2
XM_005254492.4 468 Intron XP_005254549.1
XM_011521715.2 468 Intron XP_011520017.1
XM_011521717.2 468 Intron XP_011520019.1
XM_011521718.2 468 Intron XP_011520020.1
XM_017022357.1 468 Intron XP_016877846.1
XM_017022358.1 468 Intron XP_016877847.1
XM_017022359.1 468 Intron XP_016877848.1
Gene
THAP10
Gene Name
THAP domain containing 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020147.3 468 Nonsense Mutation GGA,TGA G103* NP_064532.1

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