Product Details

SNP ID
rs138191223
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:62647178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCTGGAGAAGTCCCGAATGAAGC[G/T]ACCCCGCTCTGATTGGAAGATGAAC
Phenotype
MIM: 104160 MIM: 611349
Polymorphism
G/T, Transversion 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 2955 Intron NP_001265121.1
NM_001278193.1 2955 Intron NP_001265122.1
NM_001278194.1 2955 Intron NP_001265123.1
NM_198334.2 2955 Intron NP_938148.1
NM_198335.3 2955 Intron NP_938149.2
XM_017017412.1 2955 Intron XP_016872901.1
XM_017017413.1 2955 Intron XP_016872902.1
XM_017017414.1 2955 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 2955 Missense Mutation AGC,CGC S968R NP_085131.1

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