Product Details

SNP ID

rs71647827

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3889381 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGAGGCGGCCGGCCGAGGGCGC[C/G]CCTCTGCTCTGGCTGGACTGCCGCG

Phenotype

MIM: 606157

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PANK2 PubMed Links

Additional Information

For this assay, SNP(s) [rs71647828] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PANK2

Gene Name

pantothenate kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324191.1	448	UTR 5			NP_001311120.1
NM_001324192.1	448	Missense Mutation	CCC,CGC	P94R	NP_001311121.1
NM_001324193.1	448	Intron			NP_001311122.1
NM_024960.5	448	Intron			NP_079236.3
NM_153638.3	448	Missense Mutation	CCC,CGC	P94R	NP_705902.2
NM_153640.3	448	Intron			NP_705904.1
XM_005260835.3	448	Intron			XP_005260892.1
XM_005260836.4	448	Intron			XP_005260893.3
XM_011529364.2	448	Missense Mutation	CCC,CGC	P94R	XP_011527666.1
XM_011529365.2	448	Missense Mutation	CCC,CGC	P94R	XP_011527667.1
XM_017028077.1	448	Intron			XP_016883566.1
XM_017028078.1	448	Intron			XP_016883567.1
XM_017028079.1	448	Intron			XP_016883568.1

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