Product Details

SNP ID

rs201134669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:48621190 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCTGGGAAACCAAGGTTTTGCA[C/G]TCTAAAGCAACAGAAGACTTCTTCA

Phenotype

MIM: 605358

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GTF2A1L PubMed Links

Gene Details

Gene

GTF2A1L

Gene Name

general transcription factor IIA subunit 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193487.2	2373	Missense Mutation	CAC,CAG	H15Q	NP_001180416.1
NM_006872.4	2373	Missense Mutation	CAC,CAG	H49Q	NP_006863.2

Gene

STON1-GTF2A1L

Gene Name

STON1-GTF2A1L readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198593.1	2373	Missense Mutation	CAC,CAG	H753Q	NP_001185522.1
NM_001198594.1	2373	Missense Mutation	CAC,CAG	H753Q	NP_001185523.1
NM_172311.2	2373	Missense Mutation	CAC,CAG	H753Q	NP_758515.1

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