Product Details

SNP ID

rs58275320

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70771455 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTGGAGGACTTGAGCTTCTCCA[A/G]TGTACTCTAGTGGGAGGAGAGACAG

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	1616	Missense Mutation	ACT,ATT	T327I	NP_001305170.1
NM_001318242.1	1616	Missense Mutation	ACT,ATT	T326I	NP_001305171.1
NM_001318243.1	1616	Missense Mutation	ACT,ATT	T325I	NP_001305172.1
NM_152710.3	1616	Missense Mutation	ACT,ATT	T326I	NP_689923.3
XM_017015845.1	1616	UTR 3			XP_016871334.1
XM_017015846.1	1616	UTR 3			XP_016871335.1
XM_017015847.1	1616	UTR 3			XP_016871336.1
XM_017015848.1	1616	Silent Mutation	CAC,CAT	H374H	XP_016871337.1
XM_017015849.1	1616	Silent Mutation	CTG,TTG	L390L	XP_016871338.1
XM_017015850.1	1616	Intron			XP_016871339.1
XM_017015851.1	1616	Intron			XP_016871340.1
XM_017015852.1	1616	Silent Mutation	CAC,CAT	H340H	XP_016871341.1
XM_017015853.1	1616	Missense Mutation	ACT,ATT	T358I	XP_016871342.1
XM_017015854.1	1616	Intron			XP_016871343.1
XM_017015855.1	1616	Intron			XP_016871344.1
XM_017015856.1	1616	UTR 3			XP_016871345.1
XM_017015857.1	1616	Intron			XP_016871346.1
XM_017015858.1	1616	UTR 3			XP_016871347.1
XM_017015859.1	1616	Intron			XP_016871348.1
XM_017015860.1	1616	Silent Mutation	CAC,CAT	H282H	XP_016871349.1
XM_017015861.1	1616	Intron			XP_016871350.1
XM_017015862.1	1616	Intron			XP_016871351.1

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