Product Details

SNP ID

rs140965080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:21809340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATTAAAGACTTTGCCACATTCTT[C/T]ACATGTGTAGGGTTTCTCTCCAGTA

Phenotype

MIM: 603972

Polymorphism

C/T, 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	6525	Intron			NP_001243577.1
NM_001256649.1	6525	Missense Mutation	AAA,GAA	K227E	NP_001243578.1
NM_001256650.1	6525	Intron			NP_001243579.1
NM_001256651.1	6525	Intron			NP_001243580.1
NM_001256653.1	6525	Intron			NP_001243582.1
NM_001256654.1	6525	Missense Mutation	AAA,GAA	K168E	NP_001243583.1
NM_003423.3	6525	Missense Mutation	AAA,GAA	K233E	NP_003414.2
XM_011528257.2	6525	Intron			XP_011526559.1
XM_011528259.2	6525	Missense Mutation	AAA,GAA	K227E	XP_011526561.1
XM_017027207.1	6525	Intron			XP_016882696.1
XM_017027208.1	6525	Intron			XP_016882697.1
XM_017027209.1	6525	Intron			XP_016882698.1
XM_017027210.1	6525	Intron			XP_016882699.1
XM_017027211.1	6525	Missense Mutation	AAA,GAA	K227E	XP_016882700.1
XM_017027212.1	6525	Intron			XP_016882701.1
XM_017027213.1	6525	Intron			XP_016882702.1
XM_017027214.1	6525	Intron			XP_016882703.1
XM_017027215.1	6525	Intron			XP_016882704.1
XM_017027216.1	6525	Intron			XP_016882705.1

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