Product Details

SNP ID
rs200415122
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:46907925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAATTCTTGTGGCGACATCTCC[A/G]CCTCTGGTTTGTTGATGACACCTTC
Phenotype
MIM: 607788 MIM: 609332
Polymorphism
A/G, Transition 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_001171506.2 332 Intron NP_001164977.1
NM_001171507.2 332 Missense Mutation GCG,GTG A65V NP_001164978.1
NM_001171508.2 332 Missense Mutation GCG,GTG A65V NP_001164979.1
NM_001171509.2 332 Intron NP_001164980.1
NM_001171510.2 332 Intron NP_001164981.1
NM_001171511.2 332 Missense Mutation GCG,GTG A46V NP_001164982.1
NM_139279.5 332 Intron NP_644808.1
Gene
TTC7A
Gene Name
tetratricopeptide repeat domain 7A
There are no transcripts associated with this gene.

View Full Product Details