Product Details

SNP ID

rs622221

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:125890402 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCAGTTTGTTGTCTCTTTTGCCTTC[A/T]TTATGGTATTGTTTGCCTTTGTGGT

Phenotype

MIM: 610693 MIM: 616283

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

HYLS1 PubMed Links

Gene Details

Gene

HYLS1

Gene Name

HYLS1, centriolar and ciliogenesis associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134793.1		Intron			NP_001128265.1
NM_145014.2		Intron			NP_659451.1
XM_005271430.2		Intron			XP_005271487.1
XM_006718777.3		Intron			XP_006718840.1
XM_011542659.2		Intron			XP_011540961.1
XM_017017320.1		Intron			XP_016872809.1
XM_017017321.1		Intron			XP_016872810.1

Gene

PUS3

Gene Name

pseudouridylate synthase 3

There are no transcripts associated with this gene.

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