Product Details

SNP ID

rs201048712

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:2512896 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCGCAGACACCTACGCAGACAC[A/G]GCTTTGGCCCCCCAGTCGAAGACAT

Phenotype

MIM: 606162 MIM: 612836

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PANK4 PubMed Links

Gene Details

Gene

PANK4

Gene Name

pantothenate kinase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018216.2	1760	Silent Mutation	GCC,GCT	A581A	NP_060686.2
XM_011541708.2	1760	Intron			XP_011540010.2
XM_017001633.1	1760	Silent Mutation	GCC,GCT	A426A	XP_016857122.1

Gene

PLCH2

Gene Name

phospholipase C eta 2

There are no transcripts associated with this gene.

View Full Product Details