Product Details

SNP ID

rs202013755

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64766949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGCCATACTGCTGCTGGGCGG[A/G]GGGGGTGGCGGAGGCTGCTGCTGCT

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	1661	Silent Mutation	CCC,CCT	P636P	NP_001171501.1
NM_001178031.1	1661	Silent Mutation	CCC,CCT	P485P	NP_001171502.1
NM_004630.3	1661	Silent Mutation	CCC,CCT	P511P	NP_004621.2
NM_201995.2	1661	Silent Mutation	CCC,CCT	P511P	NP_973724.1
NM_201997.2	1661	Missense Mutation	CCC,TCC	P513S	NP_973726.2
NM_201998.2	1661	Silent Mutation	CCC,CCT	P511P	NP_973727.1
XM_011545244.1	1661	Silent Mutation	CCC,CCT	P485P	XP_011543546.1
XM_011545245.1	1661	Missense Mutation	CCC,TCC	P487S	XP_011543547.1
XM_011545246.1	1661	Missense Mutation	CCC,TCC	P484S	XP_011543548.1
XM_011545247.1	1661	Missense Mutation	CCC,TCC	P487S	XP_011543549.1
XM_011545248.1	1661	Missense Mutation	CCC,TCC	P487S	XP_011543550.1
XM_017018244.1	1661	Silent Mutation	CCC,CCT	P485P	XP_016873733.1
XM_017018245.1	1661	Silent Mutation	CCC,CCT	P515P	XP_016873734.1
XM_017018246.1	1661	Missense Mutation	CCC,TCC	P484S	XP_016873735.1
XM_017018247.1	1661	Missense Mutation	CCC,TCC	P510S	XP_016873736.1
XM_017018248.1	1661	Missense Mutation	CCC,TCC	P510S	XP_016873737.1
XM_017018249.1	1661	Silent Mutation	CCC,CCT	P396P	XP_016873738.1
XM_017018250.1	1661	Silent Mutation	CCC,CCT	P396P	XP_016873739.1
XM_017018251.1	1661	Silent Mutation	CCC,CCT	P396P	XP_016873740.1

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