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GACAAGGAAGACAATGGGAAGCCCC[A/C]GTCCTCCGCCCCGTCCCGGCCCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607270 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AUTS2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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AUTS2 - autism susceptibility candidate 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127231.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | NP_001120703.1 | |
NM_001127232.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | NP_001120704.1 | |
NM_015570.3 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | NP_056385.1 | |
XM_005250257.2 | 1367 | Intron | XP_005250314.1 | |||
XM_011516010.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | XP_011514312.1 | |
XM_011516011.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | XP_011514313.1 | |
XM_011516012.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | XP_011514314.1 | |
XM_011516013.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | XP_011514315.1 | |
XM_011516014.2 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | XP_011514316.1 | |
XM_011516017.2 | 1367 | Intron | XP_011514319.1 | |||
XM_011516018.2 | 1367 | Intron | XP_011514320.1 | |||
XM_017011951.1 | 1367 | Missense Mutation | CAG,CCG | Q,P 63 | XP_016867440.1 |
LOC100507468 - uncharacterized LOC100507468 | ||||||
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There are no transcripts associated with this gene. |