Product Details

SNP ID

rs151169526

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46905653 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATTTTACCGGAAGAAGTGCTTAA[C/G]TAACGTCCAAAATATCCATGTTCTT

Phenotype

MIM: 607788

Polymorphism

C/G, 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		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

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