Product Details

SNP ID
rs142607404
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:190205175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTGATTATTCAAATCTTCCTCA[A/G]TAACTTCTTTTAGATCAGCTGGTTT
Phenotype
MIM: 615117 MIM: 610690
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C2orf88 PubMed Links

Gene Details

Gene
C2orf88
Gene Name
chromosome 2 open reading frame 88
There are no transcripts associated with this gene.

Gene
HIBCH
Gene Name
3-hydroxyisobutyryl-CoA hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014362.3 1364 Missense Mutation ACT,ATT T368I NP_055177.2
NM_198047.2 1364 UTR 3 NP_932164.1
XM_011510953.1 1364 Missense Mutation ACT,ATT T368I XP_011509255.1
XM_011510954.1 1364 Missense Mutation ACT,ATT T202I XP_011509256.1

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