Product Details

SNP ID
rs143224387
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66857950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCCCTGGGGCCCCCTGACTTCC[A/G]CAACATGACGGGACTGGTGGACCTG
Phenotype
MIM: 612810 MIM: 608786
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LRFN4 PubMed Links

Gene Details

Gene
LRFN4
Gene Name
leucine rich repeat and fibronectin type III domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024036.4 426 Missense Mutation CAC,CGC H69R NP_076941.2
XM_005274239.3 426 Missense Mutation CAC,CGC H69R XP_005274296.1
Gene
PC
Gene Name
pyruvate carboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000920.3 426 Intron NP_000911.2
NM_001040716.1 426 Intron NP_001035806.1
NM_022172.2 426 Intron NP_071504.2
XM_005274031.4 426 Intron XP_005274088.1
XM_005274032.4 426 Intron XP_005274089.1
XM_006718578.3 426 Intron XP_006718641.1
XM_006718579.3 426 Intron XP_006718642.1
XM_011545086.2 426 Intron XP_011543388.1
XM_011545087.2 426 Intron XP_011543389.1
XM_017017868.1 426 Intron XP_016873357.1
XM_017017869.1 426 Intron XP_016873358.1
XM_017017870.1 426 Intron XP_016873359.1
XM_017017871.1 426 Intron XP_016873360.1
XM_017017872.1 426 Intron XP_016873361.1

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