Product Details

SNP ID

rs200173023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70771439 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCTGGCTTGAATGCATCTGGAG[A/G]ACTTGAGCTTCTCCAATGTACTCTA

Phenotype

MIM: 607506 MIM: 612640

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS14 PubMed Links

Gene Details

Gene

ADAMTS14

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 14

There are no transcripts associated with this gene.

Gene

TBATA

Gene Name

thymus, brain and testes associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318241.1	1632	Silent Mutation	GTC,GTT	V332V	NP_001305170.1
NM_001318242.1	1632	Silent Mutation	GTC,GTT	V331V	NP_001305171.1
NM_001318243.1	1632	Silent Mutation	GTC,GTT	V330V	NP_001305172.1
NM_152710.3	1632	Silent Mutation	GTC,GTT	V331V	NP_689923.3
XM_017015845.1	1632	UTR 3			XP_016871334.1
XM_017015846.1	1632	UTR 3			XP_016871335.1
XM_017015847.1	1632	UTR 3			XP_016871336.1
XM_017015848.1	1632	Missense Mutation	CCT,TCT	P380S	XP_016871337.1
XM_017015849.1	1632	Missense Mutation	TCC,TTC	S395F	XP_016871338.1
XM_017015850.1	1632	Intron			XP_016871339.1
XM_017015851.1	1632	Intron			XP_016871340.1
XM_017015852.1	1632	Missense Mutation	CCT,TCT	P346S	XP_016871341.1
XM_017015853.1	1632	Silent Mutation	GTC,GTT	V363V	XP_016871342.1
XM_017015854.1	1632	Intron			XP_016871343.1
XM_017015855.1	1632	Intron			XP_016871344.1
XM_017015856.1	1632	UTR 3			XP_016871345.1
XM_017015857.1	1632	Intron			XP_016871346.1
XM_017015858.1	1632	UTR 3			XP_016871347.1
XM_017015859.1	1632	Intron			XP_016871348.1
XM_017015860.1	1632	Missense Mutation	CCT,TCT	P288S	XP_016871349.1
XM_017015861.1	1632	Intron			XP_016871350.1
XM_017015862.1	1632	Intron			XP_016871351.1

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