Product Details

SNP ID

rs144563810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49098988 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTTGGGCACCTGGATGTCCAAG[A/G]ACTATAGCAGGAGACAGGAGACAGG

Phenotype

MIM: 603727 MIM: 614471

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MIR6890 PubMed Links

Gene Details

Gene

MIR6890

Gene Name

microRNA 6890

There are no transcripts associated with this gene.

Gene

QARS

Gene Name

glutaminyl-tRNA synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272073.1	1836	Missense Mutation	TCC,TTC	S576F	NP_001259002.1
NM_005051.2	1836	Missense Mutation	TCC,TTC	S587F	NP_005042.1
XM_017006965.1	1836	Missense Mutation	TCC,TTC	S605F	XP_016862454.1

Gene

QRICH1

Gene Name

glutamine rich 1

There are no transcripts associated with this gene.

Gene

USP19

Gene Name

ubiquitin specific peptidase 19

There are no transcripts associated with this gene.

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