Product Details

SNP ID

rs7807869

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105460307 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGCACAGCTGTGATCAAATTACTTA[C/T]GGCATTTACATTTTCTCCAGACTGG

Phenotype

MIM: 616261

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PUS7 PubMed Links

Gene Details

Gene

PUS7

Gene Name

pseudouridylate synthase 7 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318163.1		Intron			NP_001305092.1
NM_001318164.1		Intron			NP_001305093.1
NM_019042.4		Intron			NP_061915.2
XM_005250462.3		Intron			XP_005250519.1
XM_011516336.2		Intron			XP_011514638.1
XM_017012367.1		Intron			XP_016867856.1
XM_017012368.1		Intron			XP_016867857.1

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