Product Details

SNP ID

rs141208550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:190213030 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTTTGAAGACCCCTCCATGAGTT[A/G]CCTTAGTGTGATCTTTAGAGATGTT

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	1232	Nonsense Mutation	CAA,TAA	Q313*	NP_055177.2
NM_198047.2	1232	Nonsense Mutation	CAA,TAA	Q313*	NP_932164.1
XM_011510953.1	1232	Nonsense Mutation	CAA,TAA	Q313*	XP_011509255.1
XM_011510954.1	1232	Nonsense Mutation	CAA,TAA	Q147*	XP_011509256.1

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