Product Details

SNP ID
rs139405044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27327273 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATTGGTTCTCTACGGAGCAGATC[A/G]TGGAATGAACCCTGGGGAAGGGAAA
Phenotype
MIM: 604883 MIM: 137960
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GTF3C2 PubMed Links

Gene Details

Gene
GTF3C2
Gene Name
general transcription factor IIIC subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035521.2 3164 Silent Mutation CAC,CAT H807H NP_001030598.1
NM_001318909.1 3164 Silent Mutation CAC,CAT H818H NP_001305838.1
NM_001521.3 3164 Silent Mutation CAC,CAT H807H NP_001512.1
XM_005264272.4 3164 Silent Mutation CAC,CAT H846H XP_005264329.1
XM_011532801.2 3164 Silent Mutation CAC,CAT H922H XP_011531103.1
Gene
GTF3C2-AS1
Gene Name
GTF3C2 antisense RNA 1
There are no transcripts associated with this gene.

Gene
MPV17
Gene Name
MPV17, mitochondrial inner membrane protein
There are no transcripts associated with this gene.

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