Product Details

SNP ID
rs11547307
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64764958 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAGGCTGGCAGGCGAGCCCGAG[G/A]GAGCTCAGGCTGCCCACCCACTGCT
Phenotype
MIM: 608455 MIM: 601516
Polymorphism
G/A, 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 2476 UTR 3 NP_001171501.1
NM_001178031.1 2476 UTR 3 NP_001171502.1
NM_004630.3 2476 UTR 3 NP_004621.2
NM_201995.2 2476 UTR 3 NP_973724.1
NM_201997.2 2476 UTR 3 NP_973726.2
NM_201998.2 2476 UTR 3 NP_973727.1
XM_011545244.1 2476 UTR 3 XP_011543546.1
XM_011545245.1 2476 UTR 3 XP_011543547.1
XM_011545246.1 2476 UTR 3 XP_011543548.1
XM_011545247.1 2476 UTR 3 XP_011543549.1
XM_011545248.1 2476 UTR 3 XP_011543550.1
XM_017018244.1 2476 UTR 3 XP_016873733.1
XM_017018245.1 2476 UTR 3 XP_016873734.1
XM_017018246.1 2476 UTR 3 XP_016873735.1
XM_017018247.1 2476 UTR 3 XP_016873736.1
XM_017018248.1 2476 UTR 3 XP_016873737.1
XM_017018249.1 2476 UTR 3 XP_016873738.1
XM_017018250.1 2476 UTR 3 XP_016873739.1
XM_017018251.1 2476 UTR 3 XP_016873740.1

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