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AATTCGAAGGTAGCGAGTCAGTAAC[G/A]GTGGGTCTAGAGAGTTCACCACAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300841 | ||||||||||||||||||||
Literature Links: |
F8 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 |
F8 - coagulation factor VIII | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000132.3 | 696 | Missense Mutation | CCG,CTG | P,L 2319 | NP_000123.1 | |
NM_019863.2 | 696 | Missense Mutation | CCG,CTG | P,L 184 | NP_063916.1 |
SMIM9 - small integral membrane protein 9 | ||||||
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There are no transcripts associated with this gene. |