Product Details

SNP ID

rs200095317

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:88857290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGAGATGGGGCTCCTCCCAGGAA[C/T]CAAGTCCAGTTCCACAGCTTTACGG

Phenotype

MIM: 189963

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GTF2B PubMed Links

Gene Details

Gene

GTF2B

Gene Name

general transcription factor IIB

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001514.5	1054	Missense Mutation	ATT,GTT	I245V	NP_001505.1
XM_011541299.1	1054	Missense Mutation	ATT,GTT	I214V	XP_011539601.1

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