Product Details

SNP ID: rs192543506
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:4380906 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGCTCCAGGGTCCCTCTGCTGCTGC[C/T]GCTGCTCCTGCTACTGGCCCTGGGG
Phenotype: MIM: 611668 MIM: 608843
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CORO7 PubMed Links

Gene Details

Gene: CORO7
Gene Name: coronin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201472.1	184	Intron			NP_001188401.1
NM_001201473.1	184	Intron			NP_001188402.1
NM_024535.4	184	Intron			NP_078811.3

Gene: CORO7-PAM16
Gene Name: CORO7-PAM16 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201479.1	184	Intron			NP_001188408.1

Gene: VASN
Gene Name: vasorin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138440.2	184	Missense Mutation	CCG,CTG	P10L	NP_612449.2

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