Product Details

SNP ID

rs148124193

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:45194511 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTTGATCAGTATCTTCCAGGCT[A/G]TTGTGTTTCCCTTCATACTCCTTTT

Phenotype

MIM: 189969

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTF2F2 PubMed Links

Gene Details

Gene

GTF2F2

Gene Name

general transcription factor IIF subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004128.2	461	Intron			NP_004119.1
XM_011535052.2	461	Intron			XP_011533354.1
XM_011535053.2	461	Intron			XP_011533355.1
XM_017020550.1	461	Intron			XP_016876039.1
XM_017020551.1	461	Intron			XP_016876040.1

Gene

KCTD4

Gene Name

potassium channel tetramerization domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198404.2	461	Silent Mutation	AAC,AAT	N19N	NP_940686.2

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