Product Details

SNP ID

rs6729621

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46917890 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTGGGTCCTTCTGCTACCTCACTC[A/G]TTATCCTTTCTTGGGCTTCTTAATT

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		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

Gene

TTC7A

Gene Name

tetratricopeptide repeat domain 7A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	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

View Full Product Details