Product Details

SNP ID

rs201757914

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49098920 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTCCTCTCAATGAAGACAATGG[A/G]TGCAAAGGGAACCTGATGGAAGCCT

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	1904	Missense Mutation	CCC,TCC	P599S	NP_001259002.1
NM_005051.2	1904	Missense Mutation	CCC,TCC	P610S	NP_005042.1
XM_017006965.1	1904	Missense Mutation	CCC,TCC	P628S	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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