Product Details

SNP ID

rs11919970

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.3:185192345 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

TCCAGTTGGGGAATATCAGGGTTCT[G/T]CCTGTAATATTTCTGCAATTTCTCT

Phenotype

MIM: 607037

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EHHADH PubMed Links

Gene Details

Gene

EHHADH

Gene Name

enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166415.1	2111	Missense Mutation	AAG,CAG	K589Q	NP_001159887.1
NM_001966.3	2111	Missense Mutation	AAG,CAG	K685Q	NP_001957.2
XM_006713525.1	2111	Missense Mutation	AAG,CAG	K477Q	XP_006713588.1
XM_011512517.1	2111	Missense Mutation	AAG,CAG	K589Q	XP_011510819.1
XM_017005839.1	2111	Missense Mutation	AAG,CAG	K477Q	XP_016861328.1

Gene

EHHADH-AS1

Gene Name

EHHADH antisense RNA 1

There are no transcripts associated with this gene.

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