Product Details

SNP ID

rs140261963

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133414735 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCGATGTCCCCTCGTTCTGGAA[C/T]AATATCACCATTTGTCCTTTCCTTG

Phenotype

MIM: 604134 MIM: 602930

Polymorphism

C/T, 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	437	Intron			NP_620594.1
NM_139026.4	437	Intron			NP_620595.1
NM_139027.4	437	Intron			NP_620596.2
XM_011518176.2	437	Intron			XP_011516478.1
XM_011518178.1	437	Intron			XP_011516480.1
XM_011518179.1	437	Intron			XP_011516481.1
XM_017014232.1	437	Intron			XP_016869721.1
XM_017014233.1	437	Intron			XP_016869722.1
XM_017014234.1	437	Intron			XP_016869723.1
XM_017014235.1	437	Intron			XP_016869724.1

Gene

REXO4

Gene Name

REX4 homolog, 3'-5' exonuclease

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001279349.1	437	Silent Mutation	TTA,TTG	L108L	NP_001266278.1
NM_001279350.1	437	Missense Mutation	ATT,GTT	I31V	NP_001266279.1
NM_001279351.1	437	Missense Mutation	ATT,GTT	I75V	NP_001266280.1
NM_020385.3	437	Missense Mutation	ATT,GTT	I168V	NP_065118.2

Gene

STKLD1

Gene Name

serine/threonine kinase like domain containing 1

There are no transcripts associated with this gene.

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