Product Details

SNP ID

hCV25600515

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64767188 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGACCCACAGCCAGCAGACAGCCA[C/T]TACCTTTTCCTTGATGCAGGCGATA

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		Intron			NP_001171501.1
NM_004630.3		Intron			NP_004621.2
NM_201995.2		Intron			NP_973724.1
NM_201997.2		Intron			NP_973726.2
NM_201998.2		Intron			NP_973727.1

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