Product Details

SNP ID
rs189822486
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64765860 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGTGGGGGAGCTGGAGGCATCCC[A/G]AAGGGCGGCATGCCCGCCACCCCCA
Phenotype
MIM: 608455 MIM: 601516
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PYGM PubMed Links

Gene Details

Gene
PYGM
Gene Name
phosphorylase, glycogen, muscle
There are no transcripts associated with this gene.

Gene
SF1
Gene Name
splicing factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178030.1 2034 Intron NP_001171501.1
NM_001178031.1 2034 Silent Mutation TTC,TTT F600F NP_001171502.1
NM_004630.3 2034 Silent Mutation TTC,TTT F626F NP_004621.2
NM_201995.2 2034 Intron NP_973724.1
NM_201997.2 2034 Intron NP_973726.2
NM_201998.2 2034 Intron NP_973727.1
XM_011545244.1 2034 Intron XP_011543546.1
XM_011545245.1 2034 UTR 3 XP_011543547.1
XM_011545246.1 2034 UTR 3 XP_011543548.1
XM_011545247.1 2034 Intron XP_011543549.1
XM_011545248.1 2034 Intron XP_011543550.1
XM_017018244.1 2034 Silent Mutation TTC,TTT F600F XP_016873733.1
XM_017018245.1 2034 Silent Mutation TTC,TTT F630F XP_016873734.1
XM_017018246.1 2034 Intron XP_016873735.1
XM_017018247.1 2034 UTR 3 XP_016873736.1
XM_017018248.1 2034 Intron XP_016873737.1
XM_017018249.1 2034 Silent Mutation TTC,TTT F511F XP_016873738.1
XM_017018250.1 2034 Silent Mutation TTC,TTT F511F XP_016873739.1
XM_017018251.1 2034 Silent Mutation TTC,TTT F511F XP_016873740.1

View Full Product Details