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AGCCGTGGCAGCTCATCCCTTGTCA[C/T]TGGGGGAAAACGGCTATCTTTAAGG
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 | |||
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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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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 | 694 | Missense Mutation | ATG,GTG | M,V 168 | NP_001020751.1 | |
NM_001171689.1 | 694 | Missense Mutation | ATG,GTG | M,V 82 | NP_001165160.1 | |
NM_015365.2 | 694 | Missense Mutation | ATG,GTG | M,V 205 | NP_056180.1 |
SNORD96B - small nucleolar RNA, C/D box 96B | ||||||
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There are no transcripts associated with this gene. |