Product Details

SNP ID

rs140082940

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:129908623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTGTCTCTCCCAACCCCAAGCC[A/C]CCATAAAATTTATTCATTCCTATTA

Phenotype

MIM: 300508

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

UTP14A PubMed Links

Gene Details

Gene

UTP14A

Gene Name

UTP14A small subunit processome component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166221.1		Intron			NP_001159693.1
NM_006649.3		Intron			NP_006640.2
XM_017029237.1		Intron			XP_016884726.1
XM_017029238.1		Intron			XP_016884727.1

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