Product Details

SNP ID

rs138542330

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29993785 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCCTCATCACAGCCGGGTGGTC[C/G]TCTCCACGGCGACCTGAGCCAGCCT

Phenotype

MIM: 603365 MIM: 613199

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HIRIP3 PubMed Links

Gene Details

Gene

HIRIP3

Gene Name

HIRA interacting protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197323.1	1754	Missense Mutation	CGA,GGA	R109G	NP_001184252.1
NM_003609.4	1754	Missense Mutation	GAC,GAG	D421E	NP_003600.2

Gene

INO80E

Gene Name

INO80 complex subunit E

There are no transcripts associated with this gene.

Gene

TAOK2

Gene Name

TAO kinase 2

There are no transcripts associated with this gene.

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