Product Details

SNP ID

rs2301614

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133460038 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCCGGCTACCGAGCCCTTTGTGAG[A/G]GCTGTGAGCTGCGCCTGACGGTGGC

Phenotype

MIM: 604134 MIM: 613104

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139025.4	74	Intron			NP_620594.1
NM_139026.4	74	Intron			NP_620595.1
NM_139027.4	74	Intron			NP_620596.2
XM_011518176.2	74	Intron			XP_011516478.1
XM_011518178.1	74	Intron			XP_011516480.1
XM_011518179.1	74	Intron			XP_011516481.1
XM_017014232.1	74	Intron			XP_016869721.1
XM_017014233.1	74	Intron			XP_016869722.1
XM_017014234.1	74	Intron			XP_016869723.1
XM_017014235.1	74	Intron			XP_016869724.1

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	74	UTR 5			NP_001129247.1
NM_001242369.1	74	UTR 5			NP_001229298.1
NM_001242370.1	74	UTR 5			NP_001229299.1
NM_017586.3	74	UTR 5			NP_060056.1
XM_011518181.2	74	Intron			XP_011516483.1
XM_011518182.1	74	UTR 5			XP_011516484.1
XM_011518184.1	74	Intron			XP_011516486.1
XM_011518185.2	74	Intron			XP_011516487.1
XM_011518186.1	74	UTR 5			XP_011516488.1

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