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SNP ID: rs201740690
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:39386266 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCACGGGCAGCCCGGGCCTCATCCT[C/T]GCTGCTCTCGTCCTCACCACTGCCA
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	1652	Intron			NP_001243755.1
NM_019088.3	1652	Missense Mutation	AAG,GAG	K441E	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	1652	Intron			NP_001290543.1
NM_018028.3	1652	Intron			NP_060498.2
XM_011527057.2	1652	Intron			XP_011525359.1
XM_011527060.2	1652	Intron			XP_011525362.1
XM_011527061.2	1652	Intron			XP_011525363.1
XM_011527062.2	1652	Intron			XP_011525364.1
XM_011527063.2	1652	Intron			XP_011525365.1
XM_011527064.2	1652	Intron			XP_011525366.1
XM_017026918.1	1652	Intron			XP_016882407.1
XM_017026919.1	1652	Intron			XP_016882408.1
XM_017026920.1	1652	Intron			XP_016882409.1
XM_017026921.1	1652	Intron			XP_016882410.1
XM_017026922.1	1652	Intron			XP_016882411.1
XM_017026923.1	1652	Intron			XP_016882412.1

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