Product Details

SNP ID
rs112552369
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:39386511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCCAGCTTCTTTCTCTTCTGTC[C/T]CCATCTCCTCTTCCTCTTCCTCCTC
Phenotype
MIM: 612914 MIM: 610506
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MED29 PubMed Links

Gene Details

Gene
MED29
Gene Name
mediator complex subunit 29
There are no transcripts associated with this gene.

Gene
PAF1
Gene Name
PAF1 homolog, Paf1/RNA polymerase II complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256826.1 1455 Missense Mutation GAG,GGG E375G NP_001243755.1
NM_019088.3 1455 Missense Mutation GAG,GGG E385G NP_061961.2
Gene
SAMD4B
Gene Name
sterile alpha motif domain containing 4B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303614.1 1455 Intron NP_001290543.1
NM_018028.3 1455 Intron NP_060498.2
XM_011527057.2 1455 Intron XP_011525359.1
XM_011527060.2 1455 Intron XP_011525362.1
XM_011527061.2 1455 Intron XP_011525363.1
XM_011527062.2 1455 Intron XP_011525364.1
XM_011527063.2 1455 Intron XP_011525365.1
XM_011527064.2 1455 Intron XP_011525366.1
XM_017026918.1 1455 Intron XP_016882407.1
XM_017026919.1 1455 Intron XP_016882408.1
XM_017026920.1 1455 Intron XP_016882409.1
XM_017026921.1 1455 Intron XP_016882410.1
XM_017026922.1 1455 Intron XP_016882411.1
XM_017026923.1 1455 Intron XP_016882412.1

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