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TAGTCCTACAAATTGCAAGACCTCT[C/T]GGAGTTGTTTTTTTAGCGTGGTAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611170 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SAMD9L 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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SAMD9L - sterile alpha motif domain containing 9 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303496.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | NP_001290425.1 | |
NM_001303497.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | NP_001290426.1 | |
NM_001303498.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | NP_001290427.1 | |
NM_001303500.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | NP_001290429.1 | |
NM_152703.3 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | NP_689916.2 | |
XM_005250193.3 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | XP_005250250.1 | |
XM_006715890.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | XP_006715953.1 | |
XM_011515903.2 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | XP_011514205.1 | |
XM_017011822.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | XP_016867311.1 | |
XM_017011823.1 | 4270 | Missense Mutation | CAA,CGA | Q,R 1411 | XP_016867312.1 |