Product Details

SNP ID
hCV8392
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:32997184 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCACGAACGTCACAGCACATAGT[C/T]CTGGATCATCACTGCTGCAGGGTGC
Phenotype
MIM: 611458
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GLB1 PubMed Links

Gene Details

Gene
GLB1
Gene Name
galactosidase beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000404.3 1934 Missense Mutation GAA,GGA E632G NP_000395.2
NM_001079811.2 1934 Missense Mutation GAA,GGA E602G NP_001073279.1
NM_001135602.2 1934 Missense Mutation GAA,GGA E501G NP_001129074.1
NM_001317040.1 1934 Missense Mutation GAA,GGA E680G NP_001303969.1

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