Product Details

SNP ID

rs201690440

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:56338733 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGGAACCAAAAAATATTTTTTGC[C/T]CTGATGGTGAGGTACACGGGGATGA

Phenotype

MIM: 614365

Polymorphism

C/T, 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	2931	Missense Mutation	GAG,GGG	E889G	NP_001273597.1
NM_001286669.1	2931	Missense Mutation	GAG,GGG	E836G	NP_001273598.1
NM_001286670.1	2931	Missense Mutation	GAG,GGG	E504G	NP_001273599.1
NM_001286671.1	2931	Silent Mutation	AGA,AGG	R849R	NP_001273600.1
NM_001286672.1	2931	Intron			NP_001273601.1
NM_001323890.1	2931	Missense Mutation	GAG,GGG	E1028G	NP_001310819.1
NM_001323892.1	2931	Silent Mutation	AGA,AGG	R934R	NP_001310821.1
NM_001323893.1	2931	Silent Mutation	AGA,AGG	R781R	NP_001310822.1
NM_001323899.1	2931	Missense Mutation	GAG,GGG	E612G	NP_001310828.1
NM_181806.3	2931	Missense Mutation	GAG,GGG	E989G	NP_861522.2
XM_017007740.1	2931	Missense Mutation	GAG,GGG	E945G	XP_016863229.1
XM_017007741.1	2931	Missense Mutation	GAG,GGG	E836G	XP_016863230.1
XM_017007742.1	2931	Missense Mutation	GAG,GGG	E836G	XP_016863231.1
XM_017007743.1	2931	Silent Mutation	AGA,AGG	R890R	XP_016863232.1
XM_017007744.1	2931	Missense Mutation	GAG,GGG	E567G	XP_016863233.1

Gene

KIAA1211

Gene Name

KIAA1211

There are no transcripts associated with this gene.

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