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SNP ID: rs201393639
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:26193608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCCCTTGGACACCATCTGTGTCAG[C/G]AGTTCTGGGTTTCCACCTCCAAACC
Phenotype: MIM: 600890
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: GAREM2 PubMed Links

Gene Details

Gene: GAREM2
Gene Name: GRB2 associated regulator of MAPK1 subtype 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168241.1	1984	Intron			NP_001161713.1
NM_001191033.1	1984	Intron			NP_001177962.1
XM_006711951.3	1984	Intron			XP_006712014.1
XM_011532564.2	1984	Intron			XP_011530866.1
XM_011532565.2	1984	Intron			XP_011530867.1
XM_011532566.2	1984	Intron			XP_011530868.1
XM_011532567.2	1984	Intron			XP_011530869.1

Gene: HADHA
Gene Name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000182.4	1984	Silent Mutation	CTC,CTG	L618L	NP_000173.2

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