Product Details

SNP ID

rs138085112

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:135287201 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTTCTGGTGTCTAAGAAGGCTC[A/G]ATCGCCTACTAAAGTTTCTCTTGCA

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	3308	Intron			NP_001171992.1
NM_007131.4	3308	Missense Mutation	TCG,TTG	S490L	NP_009062.2
XM_005262469.1	3308	Missense Mutation	TCG,TTG	S490L	XP_005262526.1
XM_005262471.3	3308	Missense Mutation	TCG,TTG	S283L	XP_005262528.1
XM_011531391.1	3308	Missense Mutation	TCG,TTG	S490L	XP_011529693.1
XM_011531395.2	3308	Missense Mutation	TCG,TTG	S340L	XP_011529697.1
XM_011531396.2	3308	Missense Mutation	TCG,TTG	S322L	XP_011529698.1
XM_011531397.2	3308	Missense Mutation	TCG,TTG	S319L	XP_011529699.1
XM_017029818.1	3308	Missense Mutation	TCG,TTG	S344L	XP_016885307.1
XM_017029819.1	3308	Missense Mutation	TCG,TTG	S356L	XP_016885308.1
XM_017029820.1	3308	Missense Mutation	TCG,TTG	S319L	XP_016885309.1

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