Product Details

SNP ID
rs138908806
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:70882591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGAAGTTCTAGACCACAATTCCT[C/T]TGTCTGAGTAGTTGCATTACACAGT
Phenotype
MIM: 612538
Polymorphism
C/T, Transition 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_001199017.2 798 Intron NP_001185946.1
NM_001199018.2 798 Intron NP_001185947.1
NM_001284357.1 798 Intron NP_001271286.1
NM_017691.4 798 Intron NP_060161.2
XM_005254492.4 798 Intron XP_005254549.1
XM_011521715.2 798 Intron XP_011520017.1
XM_011521717.2 798 Intron XP_011520019.1
XM_011521718.2 798 Intron XP_011520020.1
XM_017022357.1 798 Intron XP_016877846.1
XM_017022358.1 798 Intron XP_016877847.1
XM_017022359.1 798 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_020147.3 798 Missense Mutation AAG,GAG K213E NP_064532.1

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