Product Details

SNP ID

rs147527227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:56338763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGAGGTACACGGGGATGAAAAG[A/G]TTGGTCCACTGGTAGAGAACTGCCA

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	2901	Missense Mutation	ACC,ATC	T879I	NP_001273597.1
NM_001286669.1	2901	Missense Mutation	ACC,ATC	T826I	NP_001273598.1
NM_001286670.1	2901	Missense Mutation	ACC,ATC	T494I	NP_001273599.1
NM_001286671.1	2901	Silent Mutation	AAC,AAT	N839N	NP_001273600.1
NM_001286672.1	2901	Intron			NP_001273601.1
NM_001323890.1	2901	Missense Mutation	ACC,ATC	T1018I	NP_001310819.1
NM_001323892.1	2901	Silent Mutation	AAC,AAT	N924N	NP_001310821.1
NM_001323893.1	2901	Silent Mutation	AAC,AAT	N771N	NP_001310822.1
NM_001323899.1	2901	Missense Mutation	ACC,ATC	T602I	NP_001310828.1
NM_181806.3	2901	Missense Mutation	ACC,ATC	T979I	NP_861522.2
XM_017007740.1	2901	Missense Mutation	ACC,ATC	T935I	XP_016863229.1
XM_017007741.1	2901	Missense Mutation	ACC,ATC	T826I	XP_016863230.1
XM_017007742.1	2901	Missense Mutation	ACC,ATC	T826I	XP_016863231.1
XM_017007743.1	2901	Silent Mutation	AAC,AAT	N880N	XP_016863232.1
XM_017007744.1	2901	Missense Mutation	ACC,ATC	T557I	XP_016863233.1

Gene

KIAA1211

Gene Name

KIAA1211

There are no transcripts associated with this gene.

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