Product Details

SNP ID
rs199844797
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:70148544 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATTTGTAAGAGGTCATTATTTTGA[A/G]GGTCCAACGTGGTCAGATTTTCCAT
Phenotype
MIM: 614453
Polymorphism
A/G, 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 1526 Missense Mutation CCT,CTT P549L NP_060238.3
XM_005271013.1 1526 Missense Mutation CCT,CTT P331L XP_005271070.1
XM_011541763.1 1526 Missense Mutation CCT,CTT P331L XP_011540065.1
XM_017001695.1 1526 Missense Mutation CCT,CTT P308L XP_016857184.1
XM_017001696.1 1526 Missense Mutation CCT,CTT P308L 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 1526 Intron NP_065845.1
XM_017001885.1 1526 Intron XP_016857374.1
XM_017001886.1 1526 Intron XP_016857375.1
XM_017001887.1 1526 Intron XP_016857376.1
XM_017001888.1 1526 Intron XP_016857377.1
XM_017001889.1 1526 Intron XP_016857378.1
XM_017001890.1 1526 Intron XP_016857379.1
XM_017001891.1 1526 Intron XP_016857380.1
XM_017001892.1 1526 Intron XP_016857381.1
XM_017001893.1 1526 Intron XP_016857382.1
XM_017001894.1 1526 Intron XP_016857383.1
XM_017001895.1 1526 Intron XP_016857384.1

View Full Product Details