Product Details

SNP ID

rs11247399

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:47473450 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTAGGCCTTCGTTGCCTTGATTA[A/G]AAATGGTTTTTAAAAGATGAAACAA

Phenotype

MIM: 172490

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PHKB PubMed Links

Gene Details

Gene

PHKB

Gene Name

phosphorylase kinase regulatory subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000293.2		Intron			NP_000284.1
NM_001031835.2		Intron			NP_001027005.1
XM_005255983.4		Intron			XP_005256040.1
XM_005255984.4		Intron			XP_005256041.1
XM_017023282.1		Intron			XP_016878771.1
XM_017023283.1		Intron			XP_016878772.1
XM_017023284.1		Intron			XP_016878773.1

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