Product Details

SNP ID

rs145632958

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:6023498 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTAAAGAAAAAGCCGCTGTTTTCC[A/G]CTCCATGAACTCTGCTCTTGGGAAG

Phenotype

MIM: 600859 MIM: 613635

Polymorphism

A/G, 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	763	Missense Mutation	CAC,CGC	H217R	NP_001313535.1
NM_001326607.1	763	Missense Mutation	CAC,CGC	H188R	NP_001313536.1
NM_001326609.1	763	Missense Mutation	CAC,CGC	H179R	NP_001313538.1
NM_001326611.1	763	Missense Mutation	CAC,CGC	H179R	NP_001313540.1
NM_006303.3	763	Missense Mutation	CAC,CGC	H257R	NP_006294.2
XM_005249847.3	763	Missense Mutation	CAC,CGC	H250R	XP_005249904.1
XM_005249848.2	763	Missense Mutation	CAC,CGC	H217R	XP_005249905.1
XM_005249850.3	763	Missense Mutation	CAC,CGC	H179R	XP_005249907.1
XM_006715772.2	763	Missense Mutation	CAC,CGC	H213R	XP_006715835.1
XM_011515519.1	763	Missense Mutation	CAC,CGC	H228R	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	763	UTR 3			NP_001127807.1
NM_014413.3	763	UTR 3			NP_055228.2

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