Product Details

SNP ID

rs150154684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81190930 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGCCTGCGCATCCTCCAGCGCCC[A/G]CTCCTTCTGCCGCACAAGGCCCTGC

Phenotype

MIM: 613479

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AATK-AS1 PubMed Links

Gene Details

Gene

AATK-AS1

Gene Name

AATK antisense RNA 1

There are no transcripts associated with this gene.

Gene

CEP131

Gene Name

centrosomal protein 131

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009811.3	3173	Missense Mutation	CGG,TGG	R938W	NP_001009811.2
NM_001319228.1	3173	Missense Mutation	CGG,TGG	R977W	NP_001306157.1
NM_001319229.1	3173	Missense Mutation	CGG,TGG	R941W	NP_001306158.1
NM_014984.3	3173	Missense Mutation	CGG,TGG	R974W	NP_055799.2
XM_011524547.2	3173	Missense Mutation	CGG,TGG	R982W	XP_011522849.1
XM_011524548.2	3173	Missense Mutation	CGG,TGG	R979W	XP_011522850.1
XM_011524550.2	3173	Missense Mutation	CGG,TGG	R976W	XP_011522852.1
XM_011524551.2	3173	Missense Mutation	CGG,TGG	R982W	XP_011522853.1
XM_011524552.2	3173	Missense Mutation	CGG,TGG	R946W	XP_011522854.1
XM_011524553.2	3173	Missense Mutation	CGG,TGG	R941W	XP_011522855.1
XM_011524555.2	3173	Missense Mutation	CGG,TGG	R982W	XP_011522857.1
XM_017024369.1	3173	Missense Mutation	CGG,TGG	R977W	XP_016879858.1

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