HAX1base: Severe congenital neutropenia (Kostmann disease) | Bioinformatics |

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HAX1base
Variation registry for Severe congenital neutropenia (Kostmann disease)

Bioinformatics
Database entries	IDR fact file

Mutation statistics
Table of mutation types	Aminoacid substitutions	Codon changes	Nucleotide substitutions

Other resources
GeneCards	GDB	GenAtlas	UniGene
Source	Ensembl	GeneLynx	UniProt
EntrezGene	euGenes	UCSC browser
OMIM resources
605998

HAX1 Reference Sequences
Sequence type	Accession number	Description
Genomic sequence	IDRefSeq: D0121	The reference sequence was derived from Ensembl Human sequence AL354980.16.1.95571 .
mRNA	IDRefSeq: C0121	Homo sapiens tyrosine kinase 2 (HAX1), mRNA.
Amino Acid Sequence	O00165	HS1-associating protein X-1

This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025