Product Details

SNP ID
rs1054419
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:3153904 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCCTCCTCCTCGAACTCCCCTT[C/G]TTCGTCGGCCGTGGCGTCCTGGTAC
Phenotype
MIM: 603156 MIM: 615101
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BPHL PubMed Links

Gene Details

Gene
BPHL
Gene Name
biphenyl hydrolase-like (serine hydrolase)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302777.1 1383 Intron NP_001289706.1
NM_004332.3 1383 Intron NP_004323.2
Gene
TUBB2A
Gene Name
tubulin beta 2A class IIa
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001069.2 1383 Missense Mutation CAA,GAA Q433E NP_001060.1
NM_001310315.1 1383 Missense Mutation CAA,GAA Q348E NP_001297244.1

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