Product Details

SNP ID

rs138702635

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19720118 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGTGGCCCCTTCCCCGTAGAGC[A/G]CATCAGCCAGACGGTAGAGATTCTA

Phenotype

MIM: 138720 MIM: 602724

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GP1BB PubMed Links

Gene Details

Gene

GP1BB

Gene Name

glycoprotein Ib platelet beta subunit

There are no transcripts associated with this gene.

Gene

SEPT5

Gene Name

septin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009939.2	572	Missense Mutation	CAC,CGC	H90R	NP_001009939.1
NM_002688.5	572	Missense Mutation	CAC,CGC	H81R	NP_002679.2

Gene

SEPT5-GP1BB

Gene Name

SEPT5-GP1BB readthrough

There are no transcripts associated with this gene.

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