Product Details

SNP ID

rs147030133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:130904153 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCAGGAGGACCACTCCACGCCGT[C/T]GGCATAGGAGGCGTGCGCACCGCGC

Phenotype

MIM: 613357 MIM: 609795

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FIBCD1 PubMed Links

Gene Details

Gene

FIBCD1

Gene Name

fibrinogen C domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145106.1	1404	Missense Mutation	AAC,GAC	N433D	NP_001138578.1
NM_032843.4	1404	Missense Mutation	AAC,GAC	N433D	NP_116232.3

Gene

QRFP

Gene Name

pyroglutamylated RFamide peptide

There are no transcripts associated with this gene.

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