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- SNP ID:
- rs201153154
- Gene
-
MCFD2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 46905510 - 46905510 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
TCAGCATAGTCAATGTATCCATCAT[C/T]GTTCTTGTCATCATCTCTCAAAACA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607788
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Literature Links: |
MCFD2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
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
|
| MCFD2 - multiple coagulation factor deficiency 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001171506.2 | 532 | Intron | NP_001164977.1 | |||
| NM_001171507.2 | 532 | Missense Mutation | AAT,GAT | N,D 132 | NP_001164978.1 | |
| NM_001171508.2 | 532 | Missense Mutation | AAT,GAT | N,D 132 | NP_001164979.1 | |
| NM_001171509.2 | 532 | Intron | NP_001164980.1 | |||
| NM_001171510.2 | 532 | Intron | NP_001164981.1 | |||
| NM_001171511.2 | 532 | Missense Mutation | AAT,GAT | N,D 113 | NP_001164982.1 | |
| NM_139279.5 | 532 | Intron | NP_644808.1 | |||
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