Product Details

SNP ID
rs201322993
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64765479 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCAATGGGCGCGGAAAGTCCTC[A/T]CTCTCATGGCTCGGGCCATCGCCGC
Phenotype
MIM: 608455 MIM: 601516
Polymorphism
A/T, 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 1955 Missense Mutation GAG,GTG E666V NP_001171501.1
NM_001178031.1 1955 UTR 3 NP_001171502.1
NM_004630.3 1955 UTR 3 NP_004621.2
NM_201995.2 1955 Missense Mutation AGA,AGT R609S NP_973724.1
NM_201997.2 1955 Missense Mutation AGA,AGT R542S NP_973726.2
NM_201998.2 1955 Missense Mutation GAG,GTG E541V NP_973727.1
XM_011545244.1 1955 Missense Mutation AGA,AGT R583S XP_011543546.1
XM_011545245.1 1955 UTR 3 XP_011543547.1
XM_011545246.1 1955 UTR 3 XP_011543548.1
XM_011545247.1 1955 UTR 3 XP_011543549.1
XM_011545248.1 1955 Missense Mutation AGA,AGT R516S XP_011543550.1
XM_017018244.1 1955 UTR 3 XP_016873733.1
XM_017018245.1 1955 UTR 3 XP_016873734.1
XM_017018246.1 1955 Missense Mutation AGA,AGT R513S XP_016873735.1
XM_017018247.1 1955 UTR 3 XP_016873736.1
XM_017018248.1 1955 Missense Mutation AGA,AGT R539S XP_016873737.1
XM_017018249.1 1955 UTR 3 XP_016873738.1
XM_017018250.1 1955 UTR 3 XP_016873739.1
XM_017018251.1 1955 UTR 3 XP_016873740.1

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