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CTCCTGACAGGCCAAGGCTGTTGGC[A/G]TCCAGGGGAACTTGTCTGGGGACCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
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Literature Links: |
FAM213B PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
FAM213B - family with sequence similarity 213 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195736.1 | 536 | Missense Mutation | ATC,GTC | I,V 182 | NP_001182665.1 | |
NM_001195737.1 | 536 | Silent Mutation | GCA,GCG | A,A 170 | NP_001182666.1 | |
NM_001195738.1 | 536 | Missense Mutation | ATC,GTC | I,V 164 | NP_001182667.1 | |
NM_001195740.1 | 536 | Intron | NP_001182669.1 | |||
NM_001195741.1 | 536 | Intron | NP_001182670.1 | |||
NM_152371.3 | 536 | Missense Mutation | ATC,GTC | I,V 164 | NP_689584.2 | |
XM_006710354.3 | 536 | Silent Mutation | GCA,GCG | A,A 170 | XP_006710417.1 | |
XM_011540664.1 | 536 | Silent Mutation | GCA,GCG | A,A 188 | XP_011538966.1 | |
XM_011540665.1 | 536 | Silent Mutation | GCA,GCG | A,A 188 | XP_011538967.1 | |
XM_011540666.1 | 536 | Missense Mutation | ATC,GTC | I,V 182 | XP_011538968.1 |
LOC100996583 - uncharacterized LOC100996583 | ||||||
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There are no transcripts associated with this gene. |
MMEL1 - membrane metallo-endopeptidase-like 1 | ||||||
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There are no transcripts associated with this gene. |