Product Details

SNP ID

rs149884279

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133465355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCATCTTGTTGCTGTGTGAGGC[A/G]CCCTTCTGCTGCCAGTTCATCGAGT

Phenotype

MIM: 604134 MIM: 613104 MIM: 606813

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS13 PubMed Links

Gene Details

Gene

ADAMTS13

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 13

There are no transcripts associated with this gene.

Gene

CACFD1

Gene Name

calcium channel flower domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135775.2	330	Intron			NP_001129247.1
NM_001242369.1	330	Silent Mutation	GCA,GCG	A76A	NP_001229298.1
NM_001242370.1	330	Intron			NP_001229299.1
NM_017586.3	330	Silent Mutation	GCA,GCG	A76A	NP_060056.1
XM_011518181.2	330	Silent Mutation	GCA,GCG	A48A	XP_011516483.1
XM_011518182.1	330	Silent Mutation	GCA,GCG	A13A	XP_011516484.1
XM_011518184.1	330	Intron			XP_011516486.1
XM_011518185.2	330	Silent Mutation	GCA,GCG	A48A	XP_011516487.1
XM_011518186.1	330	Silent Mutation	GCA,GCG	A13A	XP_011516488.1

Gene

SLC2A6

Gene Name

solute carrier family 2 member 6

There are no transcripts associated with this gene.

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