Product Details

SNP ID
rs200822071
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123672131 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGCGTGACTGTGATCCCCGGTG[A/C]GGTAAGGCCAGAAGTAAACCTTCTC
Phenotype
MIM: 601750 MIM: 613846
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GTF2H3 PubMed Links

Gene Details

Gene
GTF2H3
Gene Name
general transcription factor IIH subunit 3
There are no transcripts associated with this gene.

Gene
TCTN2
Gene Name
tectonic family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143850.2 394 Missense Mutation GAG,GCG E89A NP_001137322.1
NM_024809.4 394 Missense Mutation GAG,GCG E89A NP_079085.2
XM_005253623.2 394 Missense Mutation GAG,GCG E89A XP_005253680.1
XM_006719605.3 394 Missense Mutation GAG,GCG E89A XP_006719668.1
XM_017019974.1 394 Missense Mutation GAG,GCG E89A XP_016875463.1
XM_017019975.1 394 UTR 5 XP_016875464.1

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