Product Details

SNP ID

rs201584057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:99512456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTTTTGGTTGTGGTTGTTAGATT[G/T]TTGCCTGCCCTGATGTGCTTCCTCG

Phenotype

MIM: 611272

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ZKSCAN5 PubMed Links

Gene Details

Gene

ZKSCAN5

Gene Name

zinc finger with KRAB and SCAN domains 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318082.1	548	Missense Mutation	GTT,TTT	V140F	NP_001305011.1
NM_001318083.1	548	Missense Mutation	GTT,TTT	V140F	NP_001305012.1
NM_001318084.1	548	UTR 5			NP_001305013.1
NM_014569.3	548	Missense Mutation	GTT,TTT	V140F	NP_055384.1
NM_145102.3	548	Missense Mutation	GTT,TTT	V140F	NP_659570.1
XM_011515999.2	548	UTR 5			XP_011514301.1
XM_017011918.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867407.1
XM_017011919.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867408.1
XM_017011920.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867409.1
XM_017011921.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867410.1
XM_017011922.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867411.1
XM_017011923.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867412.1
XM_017011924.1	548	Missense Mutation	GTT,TTT	V140F	XP_016867413.1
XM_017011925.1	548	UTR 5			XP_016867414.1
XM_017011926.1	548	UTR 5			XP_016867415.1
XM_017011927.1	548	UTR 5			XP_016867416.1

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