Product Details

SNP ID
hCV27528358
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:126615451 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCATCTCCGACCGCTTCCTGATG[C/T]GAGTCAACGAGTCGTCCTGGCACGA
Phenotype
MIM: 602575
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LMX1B PubMed Links

Gene Details

Gene
LMX1B
Gene Name
LIM homeobox transcription factor 1 beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174146.1 215 Nonsense Mutation CGA,TGA R70* NP_001167617.1
NM_001174147.1 215 Nonsense Mutation CGA,TGA R70* NP_001167618.1
NM_002316.3 215 Nonsense Mutation CGA,TGA R70* NP_002307.2

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