Product Details

SNP ID

rs150764275

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43409084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATCCGCAATTAGAAGACACTGGT[A/G]AGCTGTGTTACACTGCAAGAAAAGA

Phenotype

MIM: 605230 MIM: 609610

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TP53BP1 PubMed Links

Gene Details

Gene

TP53BP1

Gene Name

tumor protein p53 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001141979.1	5375	Missense Mutation	CAC,TAC	H1803Y	NP_001135451.1
NM_001141980.1	5375	Missense Mutation	CAC,TAC	H1805Y	NP_001135452.1
NM_005657.2	5375	Missense Mutation	CAC,TAC	H1800Y	NP_005648.1
XM_011521985.1	5375	Missense Mutation	CAC,TAC	H1755Y	XP_011520287.1
XM_011521986.2	5375	Intron			XP_011520288.1
XM_017022533.1	5375	Missense Mutation	CAC,TAC	H845Y	XP_016878022.1

Gene

TUBGCP4

Gene Name

tubulin gamma complex associated protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286414.2	5375	Intron			NP_001273343.1
NM_014444.4	5375	Intron			NP_055259.2
XM_011521454.2	5375	UTR 3			XP_011519756.1
XM_011521455.2	5375	UTR 3			XP_011519757.1
XM_017022078.1	5375	UTR 3			XP_016877567.1

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