Product Details

SNP ID
rs202008289
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:62647134 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTGTGCAGCACAGCCAGATGGGG[C/T]CCACCCTCACCTCCACCCTCCCTGG
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 2999 Intron NP_001265121.1
NM_001278193.1 2999 Intron NP_001265122.1
NM_001278194.1 2999 Intron NP_001265123.1
NM_198334.2 2999 Intron NP_938148.1
NM_198335.3 2999 Intron NP_938149.2
XM_017017412.1 2999 Intron XP_016872901.1
XM_017017413.1 2999 Intron XP_016872902.1
XM_017017414.1 2999 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 2999 Silent Mutation GGA,GGG G982G NP_085131.1

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