Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTACTCTTTTGTCTCTTGTCAAAGC[A/G]TAACTCAAAGACAATAGTTATCTTC
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 | |||
---|---|---|---|---|---|
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
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
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 | Intron | NP_001164977.1 | ||||
NM_001171507.2 | Intron | NP_001164978.1 | ||||
NM_001171508.2 | Intron | NP_001164979.1 | ||||
NM_001171509.2 | Intron | NP_001164980.1 | ||||
NM_001171510.2 | Intron | NP_001164981.1 | ||||
NM_001171511.2 | Intron | NP_001164982.1 | ||||
NM_139279.5 | Intron | NP_644808.1 |
TTC7A - tetratricopeptide repeat domain 7A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288951.1 | Intron | NP_001275880.1 | ||||
NM_001288953.1 | Intron | NP_001275882.1 | ||||
NM_001288955.1 | Intron | NP_001275884.1 | ||||
NM_020458.3 | Intron | NP_065191.2 | ||||
XM_005264439.3 | Intron | XP_005264496.1 | ||||
XM_011532998.2 | Intron | XP_011531300.1 | ||||
XM_011532999.2 | Intron | XP_011531301.1 | ||||
XM_011533000.2 | Intron | XP_011531302.1 | ||||
XM_011533001.2 | Intron | XP_011531303.1 | ||||
XM_017004524.1 | Intron | XP_016860013.1 | ||||
XM_017004525.1 | Intron | XP_016860014.1 | ||||
XM_017004526.1 | Intron | XP_016860015.1 | ||||
XM_017004527.1 | Intron | XP_016860016.1 | ||||
XM_017004528.1 | Intron | XP_016860017.1 | ||||
XM_017004529.1 | Intron | XP_016860018.1 | ||||
XM_017004530.1 | Intron | XP_016860019.1 |