Product Details

SNP ID

rs34224798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:92301762 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCCATAGCAATATTATAATACAT[G/T]TCTTTAGACACCTCAGGTAGTTTCT

Phenotype

MIM: 600709 MIM: 611534

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IARS PubMed Links

Gene Details

Gene

IARS

Gene Name

isoleucyl-tRNA synthetase

There are no transcripts associated with this gene.

Gene

MIR3651

Gene Name

microRNA 3651

There are no transcripts associated with this gene.

Gene

NOL8

Gene Name

nucleolar protein 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256394.1	2929	Missense Mutation	GAA,GAC	E920D	NP_001243323.1
NM_017948.5	2929	Missense Mutation	GAA,GAC	E988D	NP_060418.4
XM_006717166.3	2929	Missense Mutation	GAA,GAC	E988D	XP_006717229.1
XM_006717167.3	2929	Missense Mutation	GAA,GAC	E988D	XP_006717230.1
XM_006717168.3	2929	Missense Mutation	GAA,GAC	E950D	XP_006717231.1
XM_006717169.3	2929	Missense Mutation	GAA,GAC	E920D	XP_006717232.1
XM_006717170.3	2929	Missense Mutation	GAA,GAC	E920D	XP_006717233.1
XM_006717172.3	2929	Missense Mutation	GAA,GAC	E862D	XP_006717235.1
XM_006717173.3	2929	Missense Mutation	GAA,GAC	E862D	XP_006717236.1
XM_011518824.2	2929	Missense Mutation	GAA,GAC	E920D	XP_011517126.1
XM_011518827.2	2929	Missense Mutation	GAA,GAC	E862D	XP_011517129.1
XM_017014876.1	2929	Missense Mutation	GAA,GAC	E950D	XP_016870365.1
XM_017014877.1	2929	Missense Mutation	GAA,GAC	E882D	XP_016870366.1
XM_017014878.1	2929	Missense Mutation	GAA,GAC	E862D	XP_016870367.1
XM_017014879.1	2929	Missense Mutation	GAA,GAC	E862D	XP_016870368.1
XM_017014880.1	2929	Missense Mutation	GAA,GAC	E824D	XP_016870369.1

Gene

SNORA84

Gene Name

small nucleolar RNA, H/ACA box 84

There are no transcripts associated with this gene.

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