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SNP ID

rs145420212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42104816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTCTGCACAGCAGCCACTGCCT[C/G]CTCCATCAGCGTCTCCAGCGCCTCG

Phenotype

MIM: 608588 MIM: 602301

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DHX58 PubMed Links

Gene Details

Gene

DHX58

Gene Name

DEXH-box helicase 58

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024119.2	1732	Missense Mutation	CAG,GAG	Q505E	NP_077024.2
XM_017025059.1	1732	Missense Mutation	CAG,GAG	Q505E	XP_016880548.1
XM_017025060.1	1732	Missense Mutation	CAG,GAG	Q505E	XP_016880549.1

Gene

KAT2A

Gene Name

lysine acetyltransferase 2A

There are no transcripts associated with this gene.

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