Product Details

SNP ID

rs148124585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:21809300 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGTATAATTTTTTTTATGTGTA[A/G]TAAGGCGTGAGGACCAATTAAAGAC

Phenotype

MIM: 603972

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ZNF43 PubMed Links

Gene Details

Gene

ZNF43

Gene Name

zinc finger protein 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256648.1	6565	Intron			NP_001243577.1
NM_001256649.1	6565	Missense Mutation	ACT,ATT	T240I	NP_001243578.1
NM_001256650.1	6565	Intron			NP_001243579.1
NM_001256651.1	6565	Intron			NP_001243580.1
NM_001256653.1	6565	Intron			NP_001243582.1
NM_001256654.1	6565	Missense Mutation	ACT,ATT	T181I	NP_001243583.1
NM_003423.3	6565	Missense Mutation	ACT,ATT	T246I	NP_003414.2
XM_011528257.2	6565	Intron			XP_011526559.1
XM_011528259.2	6565	Missense Mutation	ACT,ATT	T240I	XP_011526561.1
XM_017027207.1	6565	Intron			XP_016882696.1
XM_017027208.1	6565	Intron			XP_016882697.1
XM_017027209.1	6565	Intron			XP_016882698.1
XM_017027210.1	6565	Intron			XP_016882699.1
XM_017027211.1	6565	Missense Mutation	ACT,ATT	T240I	XP_016882700.1
XM_017027212.1	6565	Intron			XP_016882701.1
XM_017027213.1	6565	Intron			XP_016882702.1
XM_017027214.1	6565	Intron			XP_016882703.1
XM_017027215.1	6565	Intron			XP_016882704.1
XM_017027216.1	6565	Intron			XP_016882705.1

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