Product Details

SNP ID

rs138850939

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64766947 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGGAAGCCATACTGCTGCTGGGC[A/G]GAGGGGGTGGCGGAGGCTGCTGCTG

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	1663	Missense Mutation	CCG,CTG	P637L	NP_001171501.1
NM_001178031.1	1663	Missense Mutation	CCG,CTG	P486L	NP_001171502.1
NM_004630.3	1663	Missense Mutation	CCG,CTG	P512L	NP_004621.2
NM_201995.2	1663	Missense Mutation	CCG,CTG	P512L	NP_973724.1
NM_201997.2	1663	Silent Mutation	TCC,TCT	S513S	NP_973726.2
NM_201998.2	1663	Missense Mutation	CCG,CTG	P512L	NP_973727.1
XM_011545244.1	1663	Missense Mutation	CCG,CTG	P486L	XP_011543546.1
XM_011545245.1	1663	Silent Mutation	TCC,TCT	S487S	XP_011543547.1
XM_011545246.1	1663	Silent Mutation	TCC,TCT	S484S	XP_011543548.1
XM_011545247.1	1663	Silent Mutation	TCC,TCT	S487S	XP_011543549.1
XM_011545248.1	1663	Silent Mutation	TCC,TCT	S487S	XP_011543550.1
XM_017018244.1	1663	Missense Mutation	CCG,CTG	P486L	XP_016873733.1
XM_017018245.1	1663	Missense Mutation	CCG,CTG	P516L	XP_016873734.1
XM_017018246.1	1663	Silent Mutation	TCC,TCT	S484S	XP_016873735.1
XM_017018247.1	1663	Silent Mutation	TCC,TCT	S510S	XP_016873736.1
XM_017018248.1	1663	Silent Mutation	TCC,TCT	S510S	XP_016873737.1
XM_017018249.1	1663	Missense Mutation	CCG,CTG	P397L	XP_016873738.1
XM_017018250.1	1663	Missense Mutation	CCG,CTG	P397L	XP_016873739.1
XM_017018251.1	1663	Missense Mutation	CCG,CTG	P397L	XP_016873740.1

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