Product Details

SNP ID

rs201643023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49111017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAGGCACTGGTCCAGGGTGAAGT[A/G]GCCGGCCCGGGCAGCCTCACCGGCA

Phenotype

MIM: 603727 MIM: 614471

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

QARS PubMed Links

Gene Details

Gene

QARS

Gene Name

glutaminyl-tRNA synthetase

There are no transcripts associated with this gene.

Gene

USP19

Gene Name

ubiquitin specific peptidase 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199160.1	3712	Missense Mutation	CAC,TAC	H1158Y	NP_001186089.1
NM_001199161.1	3712	Missense Mutation	CAC,TAC	H1160Y	NP_001186090.1
NM_001199162.1	3712	Missense Mutation	CAC,TAC	H1148Y	NP_001186091.1
NM_006677.2	3712	Missense Mutation	CAC,TAC	H1057Y	NP_006668.1
XM_005264823.2	3712	Missense Mutation	CAC,TAC	H1162Y	XP_005264880.1
XM_005264824.2	3712	Missense Mutation	CAC,TAC	H1162Y	XP_005264881.1
XM_005264825.2	3712	Missense Mutation	CAC,TAC	H1160Y	XP_005264882.1
XM_005264826.2	3712	Missense Mutation	CAC,TAC	H1160Y	XP_005264883.1
XM_005264827.2	3712	Missense Mutation	CAC,TAC	H1147Y	XP_005264884.1
XM_005264829.2	3712	Missense Mutation	CAC,TAC	H1162Y	XP_005264886.1
XM_005264830.2	3712	Missense Mutation	CAC,TAC	H1061Y	XP_005264887.1
XM_005264831.2	3712	Missense Mutation	CAC,TAC	H1044Y	XP_005264888.1
XM_006712946.2	3712	Missense Mutation	CAC,TAC	H1161Y	XP_006713009.1
XM_006712947.2	3712	Missense Mutation	CAC,TAC	H1144Y	XP_006713010.1
XM_006712948.2	3712	Missense Mutation	CAC,TAC	H1158Y	XP_006713011.1
XM_006712949.2	3712	Missense Mutation	CAC,TAC	H1112Y	XP_006713012.1
XM_006712950.2	3712	Missense Mutation	CAC,TAC	H1145Y	XP_006713013.1
XM_006712951.2	3712	Missense Mutation	CAC,TAC	H1144Y	XP_006713014.1
XM_006712952.2	3712	Missense Mutation	CAC,TAC	H1143Y	XP_006713015.1
XM_006712953.1	3712	Missense Mutation	CAC,TAC	H1143Y	XP_006713016.1
XM_017005615.1	3712	Missense Mutation	CAC,TAC	H1159Y	XP_016861104.1
XM_017005616.1	3712	Missense Mutation	CAC,TAC	H1157Y	XP_016861105.1
XM_017005617.1	3712	Missense Mutation	CAC,TAC	H1145Y	XP_016861106.1
XM_017005618.1	3712	Missense Mutation	CAC,TAC	H1160Y	XP_016861107.1
XM_017005619.1	3712	Missense Mutation	CAC,TAC	H1159Y	XP_016861108.1
XM_017005620.1	3712	Missense Mutation	CAC,TAC	H1157Y	XP_016861109.1
XM_017005621.1	3712	Missense Mutation	CAC,TAC	H1110Y	XP_016861110.1
XM_017005622.1	3712	Missense Mutation	CAC,TAC	H1147Y	XP_016861111.1
XM_017005623.1	3712	Missense Mutation	CAC,TAC	H1108Y	XP_016861112.1
XM_017005624.1	3712	Missense Mutation	CAC,TAC	H1108Y	XP_016861113.1
XM_017005625.1	3712	Missense Mutation	CAC,TAC	H1059Y	XP_016861114.1
XM_017005626.1	3712	Missense Mutation	CAC,TAC	H1057Y	XP_016861115.1
XM_017005627.1	3712	Missense Mutation	CAC,TAC	H1046Y	XP_016861116.1
XM_017005628.1	3712	Missense Mutation	CAC,TAC	H1044Y	XP_016861117.1
XM_017005629.1	3712	Missense Mutation	CAC,TAC	H1042Y	XP_016861118.1
XM_017005630.1	3712	Missense Mutation	CAC,TAC	H1061Y	XP_016861119.1
XM_017005631.1	3712	Missense Mutation	CAC,TAC	H1059Y	XP_016861120.1
XM_017005632.1	3712	Missense Mutation	CAC,TAC	H1059Y	XP_016861121.1
XM_017005633.1	3712	Missense Mutation	CAC,TAC	H1057Y	XP_016861122.1
XM_017005634.1	3712	Missense Mutation	CAC,TAC	H1046Y	XP_016861123.1
XM_017005635.1	3712	Missense Mutation	CAC,TAC	H610Y	XP_016861124.1

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