Product Details

SNP ID

rs202182976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64765971 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATACATCATGCCGGCGGAACCAGG[C/T]GGTGGAGGCGGCGGAGGGGGAGGGG

Phenotype

MIM: 608455 MIM: 601516

Polymorphism

C/T, 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	1895	Intron			NP_001171501.1
NM_001178031.1	1895	Silent Mutation	CCA,CCG	P563P	NP_001171502.1
NM_004630.3	1895	Silent Mutation	CCA,CCG	P589P	NP_004621.2
NM_201995.2	1895	Silent Mutation	CCA,CCG	P589P	NP_973724.1
NM_201997.2	1895	Intron			NP_973726.2
NM_201998.2	1895	Intron			NP_973727.1
XM_011545244.1	1895	Silent Mutation	CCA,CCG	P563P	XP_011543546.1
XM_011545245.1	1895	Missense Mutation	ACC,GCC	T565A	XP_011543547.1
XM_011545246.1	1895	Missense Mutation	ACC,GCC	T562A	XP_011543548.1
XM_011545247.1	1895	Missense Mutation	ACC,GCC	T565A	XP_011543549.1
XM_011545248.1	1895	Intron			XP_011543550.1
XM_017018244.1	1895	Silent Mutation	CCA,CCG	P563P	XP_016873733.1
XM_017018245.1	1895	Silent Mutation	CCA,CCG	P593P	XP_016873734.1
XM_017018246.1	1895	Intron			XP_016873735.1
XM_017018247.1	1895	Missense Mutation	ACC,GCC	T588A	XP_016873736.1
XM_017018248.1	1895	Intron			XP_016873737.1
XM_017018249.1	1895	Silent Mutation	CCA,CCG	P474P	XP_016873738.1
XM_017018250.1	1895	Silent Mutation	CCA,CCG	P474P	XP_016873739.1
XM_017018251.1	1895	Silent Mutation	CCA,CCG	P474P	XP_016873740.1

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