Product Details

SNP ID
rs200189077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:69599664 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCGCAGCAGAACCATGGATGGCC[C/T]GACGCGGGGCCATGGACTCCGCAAA
Phenotype
MIM: 607270
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AUTS2 PubMed Links

Gene Details

Gene
AUTS2
Gene Name
autism susceptibility candidate 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127231.2 1190 Missense Mutation CCG,CTG P4L NP_001120703.1
NM_001127232.2 1190 Missense Mutation CCG,CTG P4L NP_001120704.1
NM_015570.3 1190 Missense Mutation CCG,CTG P4L NP_056385.1
XM_005250257.2 1190 Intron XP_005250314.1
XM_011516010.2 1190 Missense Mutation CCG,CTG P4L XP_011514312.1
XM_011516011.2 1190 Missense Mutation CCG,CTG P4L XP_011514313.1
XM_011516012.2 1190 Missense Mutation CCG,CTG P4L XP_011514314.1
XM_011516013.2 1190 Missense Mutation CCG,CTG P4L XP_011514315.1
XM_011516014.2 1190 Missense Mutation CCG,CTG P4L XP_011514316.1
XM_011516017.2 1190 Intron XP_011514319.1
XM_011516018.2 1190 Intron XP_011514320.1
XM_017011951.1 1190 Missense Mutation CCG,CTG P4L XP_016867440.1
Gene
LOC100507468
Gene Name
uncharacterized LOC100507468
There are no transcripts associated with this gene.

View Full Product Details