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GTTATCCTGCAGTGGTGCTGAAGGG[C/T]TGGCAGGTCTCACAGGGCTGGCTAC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612993 | |||||||||||||||||||||||
Literature Links: |
CMSS1 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 - 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 |
CMSS1 - cms1 ribosomal small subunit homolog (yeast) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167924.1 | 3716 | Intron | NP_001161396.1 | |||
NM_032359.3 | 3716 | Intron | NP_115735.2 |
FILIP1L - filamin A interacting protein 1 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042459.2 | 3716 | Missense Mutation | AAC,AGC | N,S 1082 | NP_001035924.1 | |
NM_001282793.1 | 3716 | Missense Mutation | AAC,AGC | N,S 658 | NP_001269722.1 | |
NM_001282794.1 | 3716 | Missense Mutation | AAC,AGC | N,S 842 | NP_001269723.1 | |
NM_014890.3 | 3716 | Missense Mutation | AAC,AGC | N,S 842 | NP_055705.2 | |
NM_182909.3 | 3716 | Missense Mutation | AAC,AGC | N,S 1082 | NP_878913.2 | |
XM_006713486.2 | 3716 | Missense Mutation | AAC,AGC | N,S 842 | XP_006713549.1 | |
XM_011512371.2 | 3716 | Missense Mutation | AAC,AGC | N,S 894 | XP_011510673.1 |