C_372088894_10

SNP ID:

rs766481708

Gene

STON1 STON1-GTF2A1L

Gene Name

stonin 1

STON1-GTF2A1L readthrough

Set Membership:

-

Chromosome Location:

Chr.2: 48586985 - 48586985 on Build GRCh38

Polymorphism:

T/C, Transition substitution

Context Sequence [VIC/FAM]:

AGGTGCTCTGGCTGTGGTGGATAGG[T/C]GGGCAATGGTGCCATTAGCCGAGAT

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 605357
Literature Links:	STON1 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

STON1 - stonin 1
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001198595.1		Intron			NP_001185524.1
NM_006873.3		Intron			NP_006864.2

STON1-GTF2A1L - STON1-GTF2A1L readthrough
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001198593.1		Intron			NP_001185522.1
NM_001198594.1		Intron			NP_001185523.1
NM_172311.2		Intron			NP_758515.1

More Information

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

endocytosis
regulation of endocytosis