Product Details

SNP ID

rs7189290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:70294876 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGGGCTGCCGGGCGCGTCCAAGAT[C/T]GCGCCCTGCGGCGGTTTCCCATCAC

Phenotype

MIM: 601065 MIM: 605812

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AARS PubMed Links

Gene Details

Gene

AARS

Gene Name

alanyl-tRNA synthetase

There are no transcripts associated with this gene.

Gene

DDX19B

Gene Name

DEAD-box helicase 19B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014449.2	44	Intron			NP_001014449.1
NM_001014451.2	44	Intron			NP_001014451.1
NM_001257172.1	44	Missense Mutation	CGC,TGC	R11C	NP_001244101.1
NM_001257173.1	44	UTR 5			NP_001244102.1
NM_001257174.1	44	Intron			NP_001244103.1
NM_001257175.1	44	Intron			NP_001244104.1
NM_007242.5	44	Intron			NP_009173.1
XM_006721127.2	44	Intron			XP_006721190.1
XM_011522832.2	44	Missense Mutation	CGC,TGC	R11C	XP_011521134.1
XM_011522833.2	44	Missense Mutation	CGC,TGC	R11C	XP_011521135.1
XM_011522834.2	44	Missense Mutation	CGC,TGC	R11C	XP_011521136.1
XM_017022890.1	44	UTR 5			XP_016878379.1

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