Product Details

SNP ID
rs145905660
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:156924694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGTCTTCTCTAAATGTCTGCCCC[C/T]GCTTACCCAGCTACAGGCCATCAAG
Phenotype
MIM: 610278
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LRRC71 PubMed Links

Gene Details

Gene
LRRC71
Gene Name
leucine rich repeat containing 71
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144702.2 995 Missense Mutation CCG,CTG P164L NP_653303.2
XM_005244926.3 995 Missense Mutation CCG,CTG P164L XP_005244983.1
XM_005244927.3 995 Missense Mutation CCG,CTG P164L XP_005244984.1
XM_005244928.2 995 Missense Mutation CCG,CTG P164L XP_005244985.1
XM_006711185.3 995 Missense Mutation CCG,CTG P137L XP_006711248.1
XM_006711186.3 995 Missense Mutation CCG,CTG P164L XP_006711249.1
XM_006711187.3 995 Missense Mutation CCG,CTG P164L XP_006711250.1
XM_011509239.2 995 Intron XP_011507541.1
XM_011509240.2 995 Intron XP_011507542.1
XM_011509241.2 995 Missense Mutation CCG,CTG P164L XP_011507543.1
XM_017000459.1 995 Missense Mutation CCG,CTG P164L XP_016855948.1
XM_017000460.1 995 UTR 5 XP_016855949.1
XM_017000461.1 995 UTR 5 XP_016855950.1
XM_017000462.1 995 UTR 5 XP_016855951.1
Gene
PEAR1
Gene Name
platelet endothelial aggregation receptor 1
There are no transcripts associated with this gene.

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