Product Details

SNP ID: rs121909751
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:19724240 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCGCGGCCGCCTGCTGCCCTATCTG[G/C]CCGAGGACGAGCTGCGCGCCGCTTG
Phenotype: MIM: 138720 MIM: 602724
Polymorphism: G/C, Transversion substitution
Allele Nomenclature
Literature Links: GP1BB PubMed Links

Gene Details

Gene: GP1BB
Gene Name: glycoprotein Ib platelet beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000407.4	424	Missense Mutation	CCC,GCC	P133A	NP_000398.1

Gene: SEPT5
Gene Name: septin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009939.2	424	Intron			NP_001009939.1
NM_002688.5	424	Intron			NP_002679.2

Gene: SEPT5-GP1BB
Gene Name: SEPT5-GP1BB readthrough

There are no transcripts associated with this gene.

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