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SNP ID: rs146807765
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:6024696 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTTCATCCCACGCCCCCATCCTTTC[C/T]GTCATCCCTCACCCCTTTGTCTTGA
Phenotype: MIM: 600859 MIM: 613635
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: AIMP2 PubMed Links

Gene Details

Gene: AIMP2
Gene Name: aminoacyl tRNA synthetase complex interacting multifunctional protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001326606.1	2013	Intron			NP_001313535.1
NM_001326607.1	2013	Intron			NP_001313536.1
NM_001326609.1	2013	Intron			NP_001313538.1
NM_001326611.1	2013	Intron			NP_001313540.1
NM_006303.3	2013	Intron			NP_006294.2
XM_005249847.3	2013	Intron			XP_005249904.1
XM_005249848.2	2013	Intron			XP_005249905.1
XM_005249850.3	2013	Intron			XP_005249907.1
XM_006715772.2	2013	Intron			XP_006715835.1
XM_011515519.1	2013	Intron			XP_011513821.1

Gene: ANKRD61
Gene Name: ankyrin repeat domain 61

There are no transcripts associated with this gene.

Gene: EIF2AK1
Gene Name: eukaryotic translation initiation factor 2 alpha kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134335.1	2013	Missense Mutation	AGA,GGA	R623G	NP_001127807.1
NM_014413.3	2013	Missense Mutation	AGA,GGA	R624G	NP_055228.2

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