Product Details

SNP ID
rs138405144
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:70148599 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCATTTTCTGAGGGTCCACAGATC[C/T]AACCTGATTATTACTAATCAGAATT
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 1471 Missense Mutation AGA,GGA R531G NP_060238.3
XM_005271013.1 1471 Missense Mutation AGA,GGA R313G XP_005271070.1
XM_011541763.1 1471 Missense Mutation AGA,GGA R313G XP_011540065.1
XM_017001695.1 1471 Missense Mutation AGA,GGA R290G XP_016857184.1
XM_017001696.1 1471 Missense Mutation AGA,GGA R290G 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 1471 Intron NP_065845.1
XM_017001885.1 1471 Intron XP_016857374.1
XM_017001886.1 1471 Intron XP_016857375.1
XM_017001887.1 1471 Intron XP_016857376.1
XM_017001888.1 1471 Intron XP_016857377.1
XM_017001889.1 1471 Intron XP_016857378.1
XM_017001890.1 1471 Intron XP_016857379.1
XM_017001891.1 1471 Intron XP_016857380.1
XM_017001892.1 1471 Intron XP_016857381.1
XM_017001893.1 1471 Intron XP_016857382.1
XM_017001894.1 1471 Intron XP_016857383.1
XM_017001895.1 1471 Intron XP_016857384.1

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