Product Details

SNP ID

rs202182817

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:91220918 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACTGCTTTGGCTTCTTTGCCAT[C/T]GAGGACTCGCGCAGAGAATATGAGC

Phenotype

MIM: 600529

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AUH PubMed Links

Gene Details

Gene

AUH

Gene Name

AU RNA binding protein/enoyl-CoA hydratase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306190.1	834	Missense Mutation	AAT,GAT	N215D	NP_001293119.1
NM_001698.2	834	Missense Mutation	AAT,GAT	N244D	NP_001689.1
XM_005252066.3	834	Missense Mutation	AAT,GAT	N254D	XP_005252123.1
XM_005252067.4	834	Missense Mutation	AAT,GAT	N254D	XP_005252124.1
XM_005252069.4	834	Missense Mutation	AAT,GAT	N254D	XP_005252126.1
XM_005252072.2	834	Intron			XP_005252129.1
XM_006717150.3	834	Missense Mutation	AAT,GAT	N225D	XP_006717213.1
XM_011518800.2	834	Intron			XP_011517102.1
XM_011518802.2	834	Missense Mutation	AAT,GAT	N135D	XP_011517104.1
XM_011518803.2	834	Intron			XP_011517105.1
XM_011518804.2	834	Intron			XP_011517106.1
XM_017014849.1	834	Missense Mutation	AAT,GAT	N244D	XP_016870338.1
XM_017014850.1	834	Missense Mutation	AAT,GAT	N135D	XP_016870339.1
XM_017014851.1	834	Missense Mutation	AAT,GAT	N135D	XP_016870340.1

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