Product Details

SNP ID

hCV25954589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:112233169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTGGATAATATCATTTTGGTAT[C/A]CCTAAAACACTGGTTTCATTAAAAA

Phenotype

MIM: 611551

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

FBLN7 PubMed Links

Gene Details

Gene

FBLN7

Gene Name

fibulin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128165.1		Intron			NP_001121637.1
NM_153214.2		Intron			NP_694946.2

Gene

ZC3H8

Gene Name

zinc finger CCCH-type containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032494.2		Intron			NP_115883.2

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