Product Details

SNP ID

rs146952729

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49110791 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGAAGCGCTTGAGCTGCACGAT[A/G]AGAACATTTGGCAGGCGCCATAGCA

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	3852	Silent Mutation	CTC,CTT	L1204L	NP_001186089.1
NM_001199161.1	3852	Silent Mutation	CTC,CTT	L1206L	NP_001186090.1
NM_001199162.1	3852	Silent Mutation	CTC,CTT	L1194L	NP_001186091.1
NM_006677.2	3852	Silent Mutation	CTC,CTT	L1103L	NP_006668.1
XM_005264823.2	3852	Silent Mutation	CTC,CTT	L1208L	XP_005264880.1
XM_005264824.2	3852	Silent Mutation	CTC,CTT	L1208L	XP_005264881.1
XM_005264825.2	3852	Silent Mutation	CTC,CTT	L1206L	XP_005264882.1
XM_005264826.2	3852	Silent Mutation	CTC,CTT	L1206L	XP_005264883.1
XM_005264827.2	3852	Silent Mutation	CTC,CTT	L1193L	XP_005264884.1
XM_005264829.2	3852	Silent Mutation	CTC,CTT	L1208L	XP_005264886.1
XM_005264830.2	3852	Silent Mutation	CTC,CTT	L1107L	XP_005264887.1
XM_005264831.2	3852	Silent Mutation	CTC,CTT	L1090L	XP_005264888.1
XM_006712946.2	3852	Silent Mutation	CTC,CTT	L1207L	XP_006713009.1
XM_006712947.2	3852	Silent Mutation	CTC,CTT	L1190L	XP_006713010.1
XM_006712948.2	3852	Silent Mutation	CTC,CTT	L1204L	XP_006713011.1
XM_006712949.2	3852	Silent Mutation	CTC,CTT	L1158L	XP_006713012.1
XM_006712950.2	3852	Silent Mutation	CTC,CTT	L1191L	XP_006713013.1
XM_006712951.2	3852	Silent Mutation	CTC,CTT	L1190L	XP_006713014.1
XM_006712952.2	3852	Silent Mutation	CTC,CTT	L1189L	XP_006713015.1
XM_006712953.1	3852	Silent Mutation	CTC,CTT	L1189L	XP_006713016.1
XM_017005615.1	3852	Silent Mutation	CTC,CTT	L1205L	XP_016861104.1
XM_017005616.1	3852	Silent Mutation	CTC,CTT	L1203L	XP_016861105.1
XM_017005617.1	3852	Silent Mutation	CTC,CTT	L1191L	XP_016861106.1
XM_017005618.1	3852	Silent Mutation	CTC,CTT	L1206L	XP_016861107.1
XM_017005619.1	3852	Silent Mutation	CTC,CTT	L1205L	XP_016861108.1
XM_017005620.1	3852	Silent Mutation	CTC,CTT	L1203L	XP_016861109.1
XM_017005621.1	3852	Silent Mutation	CTC,CTT	L1156L	XP_016861110.1
XM_017005622.1	3852	Silent Mutation	CTC,CTT	L1193L	XP_016861111.1
XM_017005623.1	3852	Silent Mutation	CTC,CTT	L1154L	XP_016861112.1
XM_017005624.1	3852	Silent Mutation	CTC,CTT	L1154L	XP_016861113.1
XM_017005625.1	3852	Silent Mutation	CTC,CTT	L1105L	XP_016861114.1
XM_017005626.1	3852	Silent Mutation	CTC,CTT	L1103L	XP_016861115.1
XM_017005627.1	3852	Silent Mutation	CTC,CTT	L1092L	XP_016861116.1
XM_017005628.1	3852	Silent Mutation	CTC,CTT	L1090L	XP_016861117.1
XM_017005629.1	3852	Silent Mutation	CTC,CTT	L1088L	XP_016861118.1
XM_017005630.1	3852	Silent Mutation	CTC,CTT	L1107L	XP_016861119.1
XM_017005631.1	3852	Silent Mutation	CTC,CTT	L1105L	XP_016861120.1
XM_017005632.1	3852	Silent Mutation	CTC,CTT	L1105L	XP_016861121.1
XM_017005633.1	3852	Silent Mutation	CTC,CTT	L1103L	XP_016861122.1
XM_017005634.1	3852	Silent Mutation	CTC,CTT	L1092L	XP_016861123.1
XM_017005635.1	3852	Silent Mutation	CTC,CTT	L656L	XP_016861124.1

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