Product Details

SNP ID
rs142270152
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:165204004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCACCCAGGTTACTGAGGGAGGTG[C/T]CGTCGCTATCCAGGTCATGGAAAAG
Phenotype
MIM: 600298
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LMX1A PubMed Links

Gene Details

Gene
LMX1A
Gene Name
LIM homeobox transcription factor 1 alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174069.1 876 Missense Mutation GAC,GGC D342G NP_001167540.1
NM_177398.3 876 Missense Mutation GAC,GGC D342G NP_796372.1
XM_011509538.2 876 Missense Mutation GAC,GGC D262G XP_011507840.1
XM_011509540.2 876 Intron XP_011507842.1

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