Product Details

SNP ID

rs139309240

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:88857360 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTACTTGTTTAGGAAGACAAAG[A/G]TTGGAACAGAACCTGGACATGAAGT

Phenotype

MIM: 189963

Polymorphism

A/G, 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	984	Silent Mutation	AAC,AAT	N221N	NP_001505.1
XM_011541299.1	984	Silent Mutation	AAC,AAT	N190N	XP_011539601.1

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