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CATCTCCGCCTCTGGTTTGTTGATG[A/G]CACCTTCTAGATGCTCCATGATATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607788 MIM: 609332 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MCFD2 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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MCFD2 - multiple coagulation factor deficiency 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171506.2 | 314 | Intron | NP_001164977.1 | |||
NM_001171507.2 | 314 | Missense Mutation | GCC,GTC | A,V 59 | NP_001164978.1 | |
NM_001171508.2 | 314 | Missense Mutation | GCC,GTC | A,V 59 | NP_001164979.1 | |
NM_001171509.2 | 314 | Intron | NP_001164980.1 | |||
NM_001171510.2 | 314 | Intron | NP_001164981.1 | |||
NM_001171511.2 | 314 | Missense Mutation | GCC,GTC | A,V 40 | NP_001164982.1 | |
NM_139279.5 | 314 | Intron | NP_644808.1 |
TTC7A - tetratricopeptide repeat domain 7A | ||||||
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There are no transcripts associated with this gene. |