Product Details

SNP ID
rs2277309
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64765814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAATATATATTTTCTTAAAAAAC[A/C]AGTCTAGTTCTGTGGTGGAGGCGGT
Phenotype
MIM: 608455 MIM: 601516
Polymorphism
A/C, Transversion 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 2080 Intron NP_001171501.1
NM_001178031.1 2080 UTR 3 NP_001171502.1
NM_004630.3 2080 UTR 3 NP_004621.2
NM_201995.2 2080 Intron NP_973724.1
NM_201997.2 2080 Intron NP_973726.2
NM_201998.2 2080 Intron NP_973727.1
XM_011545244.1 2080 Intron XP_011543546.1
XM_011545245.1 2080 UTR 3 XP_011543547.1
XM_011545246.1 2080 UTR 3 XP_011543548.1
XM_011545247.1 2080 Intron XP_011543549.1
XM_011545248.1 2080 Intron XP_011543550.1
XM_017018244.1 2080 UTR 3 XP_016873733.1
XM_017018245.1 2080 UTR 3 XP_016873734.1
XM_017018246.1 2080 Intron XP_016873735.1
XM_017018247.1 2080 UTR 3 XP_016873736.1
XM_017018248.1 2080 Intron XP_016873737.1
XM_017018249.1 2080 UTR 3 XP_016873738.1
XM_017018250.1 2080 UTR 3 XP_016873739.1
XM_017018251.1 2080 UTR 3 XP_016873740.1

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