Product Details

SNP ID

rs149376410

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64767034 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTGGGGGCTGCCCACTGGGAGGC[A/G]GCGGCGGCGGCGGCATCATGCCCAT

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	1576	Missense Mutation	CCG,CTG	P608L	NP_001171501.1
NM_001178031.1	1576	Missense Mutation	CCG,CTG	P457L	NP_001171502.1
NM_004630.3	1576	Missense Mutation	CCG,CTG	P483L	NP_004621.2
NM_201995.2	1576	Missense Mutation	CCG,CTG	P483L	NP_973724.1
NM_201997.2	1576	Silent Mutation	GCC,GCT	A484A	NP_973726.2
NM_201998.2	1576	Missense Mutation	CCG,CTG	P483L	NP_973727.1
XM_011545244.1	1576	Missense Mutation	CCG,CTG	P457L	XP_011543546.1
XM_011545245.1	1576	Silent Mutation	GCC,GCT	A458A	XP_011543547.1
XM_011545246.1	1576	Silent Mutation	GCC,GCT	A455A	XP_011543548.1
XM_011545247.1	1576	Silent Mutation	GCC,GCT	A458A	XP_011543549.1
XM_011545248.1	1576	Silent Mutation	GCC,GCT	A458A	XP_011543550.1
XM_017018244.1	1576	Missense Mutation	CCG,CTG	P457L	XP_016873733.1
XM_017018245.1	1576	Missense Mutation	CCG,CTG	P487L	XP_016873734.1
XM_017018246.1	1576	Silent Mutation	GCC,GCT	A455A	XP_016873735.1
XM_017018247.1	1576	Silent Mutation	GCC,GCT	A481A	XP_016873736.1
XM_017018248.1	1576	Silent Mutation	GCC,GCT	A481A	XP_016873737.1
XM_017018249.1	1576	Missense Mutation	CCG,CTG	P368L	XP_016873738.1
XM_017018250.1	1576	Missense Mutation	CCG,CTG	P368L	XP_016873739.1
XM_017018251.1	1576	Missense Mutation	CCG,CTG	P368L	XP_016873740.1

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