Product Details

SNP ID

rs139971483

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:135287769 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATTCTGGTCTTTTTTGATACTT[C/T]GCATCCTGATGTTTGTATTTCTGAT

Phenotype

MIM: 314997

Polymorphism

C/T, 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	2740	Intron			NP_001171992.1
NM_007131.4	2740	Missense Mutation	AAA,GAA	K301E	NP_009062.2
XM_005262469.1	2740	Missense Mutation	AAA,GAA	K301E	XP_005262526.1
XM_005262471.3	2740	Missense Mutation	AAA,GAA	K94E	XP_005262528.1
XM_011531391.1	2740	Missense Mutation	AAA,GAA	K301E	XP_011529693.1
XM_011531395.2	2740	Missense Mutation	AAA,GAA	K151E	XP_011529697.1
XM_011531396.2	2740	Missense Mutation	AAA,GAA	K133E	XP_011529698.1
XM_011531397.2	2740	Missense Mutation	AAA,GAA	K130E	XP_011529699.1
XM_017029818.1	2740	Missense Mutation	AAA,GAA	K155E	XP_016885307.1
XM_017029819.1	2740	Missense Mutation	AAA,GAA	K167E	XP_016885308.1
XM_017029820.1	2740	Missense Mutation	AAA,GAA	K130E	XP_016885309.1

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