Product Details

SNP ID
rs71583703
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64767090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCGGCATCATACCTGTGGACAG[A/G]TGGAGGCAAAGATGAGGCCTCAGGG
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 Intron NP_001171501.1
NM_001178031.1 Intron NP_001171502.1
NM_004630.3 Intron NP_004621.2
NM_201995.2 Intron NP_973724.1
NM_201997.2 Intron NP_973726.2
NM_201998.2 Intron NP_973727.1
XM_011545244.1 Intron XP_011543546.1
XM_011545245.1 Intron XP_011543547.1
XM_011545246.1 Intron XP_011543548.1
XM_011545247.1 Intron XP_011543549.1
XM_011545248.1 Intron XP_011543550.1
XM_017018244.1 Intron XP_016873733.1
XM_017018245.1 Intron XP_016873734.1
XM_017018246.1 Intron XP_016873735.1
XM_017018247.1 Intron XP_016873736.1
XM_017018248.1 Intron XP_016873737.1
XM_017018249.1 Intron XP_016873738.1
XM_017018250.1 Intron XP_016873739.1
XM_017018251.1 Intron XP_016873740.1

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