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SNP ID: rs142120825
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:26191322 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGGCATGGGGTGAACTGTTTTCC[A/T]TAGGCAGCTTCATATTTCTTGAGCC
Phenotype: MIM: 600890
Polymorphism: A/T, 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	2350	Intron			NP_001161713.1
NM_001191033.1	2350	Intron			NP_001177962.1
XM_006711951.3	2350	Intron			XP_006712014.1
XM_011532564.2	2350	Intron			XP_011530866.1
XM_011532565.2	2350	Intron			XP_011530867.1
XM_011532566.2	2350	Intron			XP_011530868.1
XM_011532567.2	2350	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	2350	Nonsense Mutation	TAA,TAT	*740Y	NP_000173.2

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