Product Details

SNP ID: rs145740158
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:106077891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTTGCCCGGGACGCTAAGGCAGCC[A/T]TGGTACTACAGGTCTTTTTTGGTAT
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	327	Missense Mutation	ATG,TTG	M61L	NP_056238.2

Gene: KBTBD3
Gene Name: kelch repeat and BTB domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152433.3	327	Intron			NP_689646.2
NM_198439.2	327	Intron			NP_940841.1
XM_006718767.3	327	Intron			XP_006718830.1
XM_011542618.2	327	Intron			XP_011540920.1
XM_011542619.2	327	Intron			XP_011540921.1

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