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SNP ID

rs201245931

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:2508864 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCGCCTCACTCGGCTGGGACCT[C/T]GTACTTGAAGATGACGCTGAAGAGC

Phenotype

MIM: 606162 MIM: 612836

Polymorphism

C/T, 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	2346	Missense Mutation	AAG,GAG	K777E	NP_060686.2
XM_011541708.2	2346	Intron			XP_011540010.2
XM_017001633.1	2346	Missense Mutation	AAG,GAG	K622E	XP_016857122.1

Gene

PLCH2

Gene Name

phospholipase C eta 2

There are no transcripts associated with this gene.

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