Product Details

SNP ID

rs201972350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:21155718 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTTTCTTTGTTGCTGACATCTC[A/G]GATGTTCTGTCCATGTTTAAGGAAC

Phenotype

MIM: 602949

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SAP18 PubMed Links

Gene Details

Gene

SAP18

Gene Name

Sin3A associated protein 18

There are no transcripts associated with this gene.

Gene

SKA3

Gene Name

spindle and kinetochore associated complex subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166017.1	1338	Intron			NP_001159489.1
NM_145061.5	1338	Nonsense Mutation	CGA,TGA	R405*	NP_659498.4
XM_005266288.3	1338	Nonsense Mutation	CGA,TGA	R323*	XP_005266345.1
XM_011534994.1	1338	Nonsense Mutation	CGA,TGA	R365*	XP_011533296.1

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