Product Details

SNP ID

rs78718926

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:44476637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTTGAGTAAGGCATGAACTCTGT[C/T]TGAAGGACTTCCCACATTGACTGCA

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	2005	Missense Mutation	AAA,AGA	K590R	NP_001265437.2
NM_001278509.2	2005	Missense Mutation	AAA,AGA	K588R	NP_001265438.2
NM_001288759.2	2005	Missense Mutation	AAA,AGA	K614R	NP_001275688.2
NM_001288760.2	2005	Missense Mutation	AAA,AGA	K272R	NP_001275689.1
NM_001288761.2	2005	Missense Mutation	AAA,AGA	K272R	NP_001275690.1
NM_001288762.2	2005	Missense Mutation	AAA,AGA	K272R	NP_001275691.1
NM_001291633.1	2005	Missense Mutation	AAA,AGA	K588R	NP_001278562.1
NM_013256.5	2005	Missense Mutation	AAA,AGA	K615R	NP_037388.3
XM_011527280.2	2005	Missense Mutation	AAA,AGA	K657R	XP_011525582.1
XM_017027250.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882739.1
XM_017027251.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882740.1
XM_017027252.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882741.1
XM_017027253.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882742.1
XM_017027254.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882743.1
XM_017027255.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882744.1
XM_017027256.1	2005	Missense Mutation	AAA,AGA	K272R	XP_016882745.1

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