Product Details

SNP ID
rs141584198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:46905562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTATTATGTTAATCAGTTCATC[G/T]TCACTCATTAGTGGTGCCTGTTCAC
Phenotype
MIM: 607788
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MCFD2 PubMed Links

Gene Details

Gene
MCFD2
Gene Name
multiple coagulation factor deficiency 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171506.2 480 Intron NP_001164977.1
NM_001171507.2 480 Missense Mutation GAA,GAC E114D NP_001164978.1
NM_001171508.2 480 Missense Mutation GAA,GAC E114D NP_001164979.1
NM_001171509.2 480 Intron NP_001164980.1
NM_001171510.2 480 Intron NP_001164981.1
NM_001171511.2 480 Missense Mutation GAA,GAC E95D NP_001164982.1
NM_139279.5 480 Intron NP_644808.1

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