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AAAACCTAGAGATGTGACTTAGTTT[A/C]CTTTCCAAAGGCTAGTGGGGACAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300195 | ||||||||||||||||||||
Literature Links: |
AMMECR1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
AMMECR1 - Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001025580.1 | Intron | NP_001020751.1 | ||||
NM_001171689.1 | Intron | NP_001165160.1 | ||||
NM_015365.2 | Intron | NP_056180.1 |