Product Details

SNP ID
rs190669889
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:70148522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAATTACCGAGCTCTGGTGGAAT[C/T]TGTAAGAGGTCATTATTTTGAAGGT
Phenotype
MIM: 614453
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LRRC40 PubMed Links

Gene Details

Gene
LRRC40
Gene Name
leucine rich repeat containing 40
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017768.4 1548 Silent Mutation CAA,CAG Q556Q NP_060238.3
XM_005271013.1 1548 Silent Mutation CAA,CAG Q338Q XP_005271070.1
XM_011541763.1 1548 Silent Mutation CAA,CAG Q338Q XP_011540065.1
XM_017001695.1 1548 Silent Mutation CAA,CAG Q315Q XP_016857184.1
XM_017001696.1 1548 Silent Mutation CAA,CAG Q315Q XP_016857185.1
Gene
LRRC7
Gene Name
leucine rich repeat containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020794.2 1548 Intron NP_065845.1
XM_017001885.1 1548 Intron XP_016857374.1
XM_017001886.1 1548 Intron XP_016857375.1
XM_017001887.1 1548 Intron XP_016857376.1
XM_017001888.1 1548 Intron XP_016857377.1
XM_017001889.1 1548 Intron XP_016857378.1
XM_017001890.1 1548 Intron XP_016857379.1
XM_017001891.1 1548 Intron XP_016857380.1
XM_017001892.1 1548 Intron XP_016857381.1
XM_017001893.1 1548 Intron XP_016857382.1
XM_017001894.1 1548 Intron XP_016857383.1
XM_017001895.1 1548 Intron XP_016857384.1

View Full Product Details