Product Details

SNP ID

rs199682108

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:2529920 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGCTTGGAGTTGGGCTGGTGC[C/T]GCGCGAACTCCTGCTCCAGCAGCAG

Phenotype

MIM: 607348 MIM: 606162

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HES5 PubMed Links

Gene Details

Gene

HES5

Gene Name

hes family bHLH transcription factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010926.3	227	Missense Mutation			NP_001010926.1
XM_005244751.4	227	Missense Mutation			XP_005244808.1

Gene

PANK4

Gene Name

pantothenate kinase 4

There are no transcripts associated with this gene.

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