Product Details

SNP ID
rs3180401
Assay Type
Functionally tested
NCBI dbSNP Submissions
34
Location
Chr.1:70151147 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCTTACCTATTAAAGGAAAGATTGA[C/T]CGTTTGCAGTCTTACCAGTGATTCC
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 1378 Missense Mutation ATC,GTC I500V NP_060238.3
XM_005271013.1 1378 Missense Mutation ATC,GTC I282V XP_005271070.1
XM_011541763.1 1378 Missense Mutation ATC,GTC I282V XP_011540065.1
XM_017001695.1 1378 Missense Mutation ATC,GTC I259V XP_016857184.1
XM_017001696.1 1378 Missense Mutation ATC,GTC I259V 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 1378 Intron NP_065845.1
XM_017001885.1 1378 Intron XP_016857374.1
XM_017001886.1 1378 Intron XP_016857375.1
XM_017001887.1 1378 Intron XP_016857376.1
XM_017001888.1 1378 Intron XP_016857377.1
XM_017001889.1 1378 Intron XP_016857378.1
XM_017001890.1 1378 Intron XP_016857379.1
XM_017001891.1 1378 Intron XP_016857380.1
XM_017001892.1 1378 Intron XP_016857381.1
XM_017001893.1 1378 Intron XP_016857382.1
XM_017001894.1 1378 Intron XP_016857383.1
XM_017001895.1 1378 Intron XP_016857384.1

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