Product Details

SNP ID

rs16988468

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:72584590 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TATCTTTTGGGATAGACTAGTCCCA[A/C]ATATTCAGAGACTATCTGGAAAGAT

Phenotype

MIM: 311870

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PHKA1 PubMed Links

Gene Details

Gene

PHKA1

Gene Name

phosphorylase kinase regulatory subunit alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122670.1		Intron			NP_001116142.1
NM_001172436.1		Intron			NP_001165907.1
NM_002637.3		Intron			NP_002628.2
XM_006724661.2		Intron			XP_006724724.1

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