Product Details

SNP ID

rs17852049

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45503023 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCCGTCGCGCCGGGTCCCGCTTC[A/C]GCTGCTGCTGCTCGGCGGCCTTGCG

Phenotype

MIM: 135820

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FBLN1 PubMed Links

Gene Details

Gene

FBLN1

Gene Name

fibulin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001996.3	185	Missense Mutation	CAG,CCG	Q13P	NP_001987.2
NM_006485.3	185	Missense Mutation	CAG,CCG	Q13P	NP_006476.2
NM_006486.2	185	Missense Mutation	CAG,CCG	Q13P	NP_006477.2
NM_006487.2	185	Missense Mutation	CAG,CCG	Q13P	NP_006478.2

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