Product Details

SNP ID
rs200452990
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:62647222 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGAACTTCTGAGGCAAGGGCCCA[C/T]GCTCCCGGAGAAAACCCCAGACACT
Phenotype
MIM: 104160 MIM: 611349
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GANAB PubMed Links

Gene Details

Gene
GANAB
Gene Name
glucosidase II alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278192.1 2911 Intron NP_001265121.1
NM_001278193.1 2911 Intron NP_001265122.1
NM_001278194.1 2911 Intron NP_001265123.1
NM_198334.2 2911 Intron NP_938148.1
NM_198335.3 2911 Intron NP_938149.2
XM_017017412.1 2911 Intron XP_016872901.1
XM_017017413.1 2911 Intron XP_016872902.1
XM_017017414.1 2911 Intron XP_016872903.1
Gene
INTS5
Gene Name
integrator complex subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030628.1 2911 Missense Mutation CAT,CGT H953R NP_085131.1

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