Product Details

SNP ID

rs200834278

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:56342927 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACATTGTGGGGAAGAGAAGAGTG[A/G]TTTTCCACAGGAATGTTTCCAAATA

Phenotype

MIM: 614365

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AASDH PubMed Links

Gene Details

Gene

AASDH

Gene Name

aminoadipate-semialdehyde dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286668.1	2780	Missense Mutation	CCA,TCA	P839S	NP_001273597.1
NM_001286669.1	2780	Missense Mutation	CCA,TCA	P786S	NP_001273598.1
NM_001286670.1	2780	Missense Mutation	CCA,TCA	P454S	NP_001273599.1
NM_001286671.1	2780	Intron			NP_001273600.1
NM_001286672.1	2780	Intron			NP_001273601.1
NM_001323890.1	2780	Missense Mutation	CCA,TCA	P978S	NP_001310819.1
NM_001323892.1	2780	Missense Mutation	ACC,ATC	T884I	NP_001310821.1
NM_001323893.1	2780	Missense Mutation	ACC,ATC	T731I	NP_001310822.1
NM_001323899.1	2780	Missense Mutation	CCA,TCA	P562S	NP_001310828.1
NM_181806.3	2780	Missense Mutation	CCA,TCA	P939S	NP_861522.2
XM_017007740.1	2780	Intron			XP_016863229.1
XM_017007741.1	2780	Missense Mutation	CCA,TCA	P786S	XP_016863230.1
XM_017007742.1	2780	Missense Mutation	CCA,TCA	P786S	XP_016863231.1
XM_017007743.1	2780	Intron			XP_016863232.1
XM_017007744.1	2780	Missense Mutation	CCA,TCA	P517S	XP_016863233.1

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