Product Details

SNP ID

rs201418411

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64766946 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTGGAAGCCATACTGCTGCTGGG[C/G]GGAGGGGGTGGCGGAGGCTGCTGCT

Phenotype

MIM: 608455 MIM: 601516

Polymorphism

C/G, 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	1664	Silent Mutation	CCC,CCG	P637P	NP_001171501.1
NM_001178031.1	1664	Silent Mutation	CCC,CCG	P486P	NP_001171502.1
NM_004630.3	1664	Silent Mutation	CCC,CCG	P512P	NP_004621.2
NM_201995.2	1664	Silent Mutation	CCC,CCG	P512P	NP_973724.1
NM_201997.2	1664	Missense Mutation	CCC,GCC	P514A	NP_973726.2
NM_201998.2	1664	Silent Mutation	CCC,CCG	P512P	NP_973727.1
XM_011545244.1	1664	Silent Mutation	CCC,CCG	P486P	XP_011543546.1
XM_011545245.1	1664	Missense Mutation	CCC,GCC	P488A	XP_011543547.1
XM_011545246.1	1664	Missense Mutation	CCC,GCC	P485A	XP_011543548.1
XM_011545247.1	1664	Missense Mutation	CCC,GCC	P488A	XP_011543549.1
XM_011545248.1	1664	Missense Mutation	CCC,GCC	P488A	XP_011543550.1
XM_017018244.1	1664	Silent Mutation	CCC,CCG	P486P	XP_016873733.1
XM_017018245.1	1664	Silent Mutation	CCC,CCG	P516P	XP_016873734.1
XM_017018246.1	1664	Missense Mutation	CCC,GCC	P485A	XP_016873735.1
XM_017018247.1	1664	Missense Mutation	CCC,GCC	P511A	XP_016873736.1
XM_017018248.1	1664	Missense Mutation	CCC,GCC	P511A	XP_016873737.1
XM_017018249.1	1664	Silent Mutation	CCC,CCG	P397P	XP_016873738.1
XM_017018250.1	1664	Silent Mutation	CCC,CCG	P397P	XP_016873739.1
XM_017018251.1	1664	Silent Mutation	CCC,CCG	P397P	XP_016873740.1

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