Product Details

SNP ID

rs201023289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:25248200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGATGGCGAAGCCGCTGACGGAC[A/T]GCGAGAAGCGGAAGCAGATCAGCGT

Phenotype

MIM: 138550

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

LOC105372580 PubMed Links

Gene Details

Gene

LOC105372580

Gene Name

uncharacterized LOC105372580

There are no transcripts associated with this gene.

Gene

PYGB

Gene Name

phosphorylase, glycogen; brain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002862.3	131	Missense Mutation	AGC,TGC	S8C	NP_002853.2

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