Product Details

SNP ID

rs185130252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:106079525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAAATTGAATATCCCTTGGAATC[A/T]TATTCGTTTGCAAAGAACTGCAAAA

Phenotype

MIM: 607756

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

AASDHPPT PubMed Links

Gene Details

Gene

AASDHPPT

Gene Name

aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015423.2	388	Missense Mutation	CAT,CTT	H81L	NP_056238.2

Gene

KBTBD3

Gene Name

kelch repeat and BTB domain containing 3

There are no transcripts associated with this gene.

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