Product Details

SNP ID

rs142917667

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:135287679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTTTTCTTCCTTGGAAAAGCTC[A/G]ATGCCATTTCTGTACACTGTGTGTA

Phenotype

MIM: 314997

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ZNF75D PubMed Links

Gene Details

Gene

ZNF75D

Gene Name

zinc finger protein 75D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001185063.2	2830	Intron			NP_001171992.1
NM_007131.4	2830	Nonsense Mutation	CGA,TGA	R331*	NP_009062.2
XM_005262469.1	2830	Nonsense Mutation	CGA,TGA	R331*	XP_005262526.1
XM_005262471.3	2830	Nonsense Mutation	CGA,TGA	R124*	XP_005262528.1
XM_011531391.1	2830	Nonsense Mutation	CGA,TGA	R331*	XP_011529693.1
XM_011531395.2	2830	Nonsense Mutation	CGA,TGA	R181*	XP_011529697.1
XM_011531396.2	2830	Nonsense Mutation	CGA,TGA	R163*	XP_011529698.1
XM_011531397.2	2830	Nonsense Mutation	CGA,TGA	R160*	XP_011529699.1
XM_017029818.1	2830	Nonsense Mutation	CGA,TGA	R185*	XP_016885307.1
XM_017029819.1	2830	Nonsense Mutation	CGA,TGA	R197*	XP_016885308.1
XM_017029820.1	2830	Nonsense Mutation	CGA,TGA	R160*	XP_016885309.1

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