Product Details

SNP ID

rs200193163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154451166 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAAATAAAAGGAAGAGGAAGACA[A/G]GTGACGATGGCGGAGATTCTCCCGA

Phenotype

MIM: 610398

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SAP30L PubMed Links

Gene Details

Gene

SAP30L

Gene Name

SAP30 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001131062.1	925	Intron			NP_001124534.1
NM_001131063.1	925	Intron			NP_001124535.1
NM_024632.5	925	Missense Mutation	AGT,GGT	S93G	NP_078908.1

Gene

SAP30L-AS1

Gene Name

SAP30L antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

View Full Product Details