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SNP ID: rs200869444
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:49118884 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCTGCGTGGGAGTCGCGGGTGGGG[A/G]TGCCGCGTGCAGTTCCCGAGGCGGG
Phenotype: MIM: 612331 MIM: 603144
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: C19orf73 PubMed Links

Gene Details

Gene: C19orf73
Gene Name: chromosome 19 open reading frame 73

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018111.2	257	Missense Mutation	CCC,TCC	P47S	NP_060581.2

Gene: LIN7B
Gene Name: lin-7 homolog B, crumbs cell polarity complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308419.1	257	Intron			NP_001295348.1
NM_022165.2	257	Intron			NP_071448.1
XM_006723323.3	257	Intron			XP_006723386.1
XM_017027131.1	257	Intron			XP_016882620.1

Gene: PPFIA3
Gene Name: PTPRF interacting protein alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003660.3	257	Intron			NP_003651.1
XM_017027407.1	257	Intron			XP_016882896.1

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