Product Details

SNP ID

rs141416252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:44476415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGATTTACAAACTAGTTACATTCA[C/T]AGAGTTTCTCTTCAGTATGAGTTGC

Phenotype

MIM: 606740

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ZNF180 PubMed Links

Gene Details

Gene

ZNF180

Gene Name

zinc finger protein 180

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278508.2	2227	Missense Mutation	TAT,TGT	Y664C	NP_001265437.2
NM_001278509.2	2227	Missense Mutation	TAT,TGT	Y662C	NP_001265438.2
NM_001288759.2	2227	Missense Mutation	TAT,TGT	Y688C	NP_001275688.2
NM_001288760.2	2227	Missense Mutation	TAT,TGT	Y346C	NP_001275689.1
NM_001288761.2	2227	Missense Mutation	TAT,TGT	Y346C	NP_001275690.1
NM_001288762.2	2227	Missense Mutation	TAT,TGT	Y346C	NP_001275691.1
NM_001291633.1	2227	Missense Mutation	TAT,TGT	Y662C	NP_001278562.1
NM_013256.5	2227	Missense Mutation	TAT,TGT	Y689C	NP_037388.3
XM_011527280.2	2227	Missense Mutation	TAT,TGT	Y731C	XP_011525582.1
XM_017027250.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882739.1
XM_017027251.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882740.1
XM_017027252.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882741.1
XM_017027253.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882742.1
XM_017027254.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882743.1
XM_017027255.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882744.1
XM_017027256.1	2227	Missense Mutation	TAT,TGT	Y346C	XP_016882745.1

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