Product Details

SNP ID

rs140511075

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39391590 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAACAGCAACAGGACTTCGATCC[G/T]GTGCAGCGTTATAAGATGCTCATCC

Phenotype

MIM: 612914 MIM: 610506

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MED29 PubMed Links

Gene Details

Gene

MED29

Gene Name

mediator complex subunit 29

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317770.1	288	Silent Mutation	CCG,CCT	P77P	NP_001304699.1
NM_017592.2	288	Silent Mutation	CCG,CCT	P77P	NP_060062.1

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	288	Intron			NP_001243755.1
NM_019088.3	288	Intron			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	288	Intron			NP_001290543.1
NM_018028.3	288	Intron			NP_060498.2
XM_011527057.2	288	Intron			XP_011525359.1
XM_011527060.2	288	Intron			XP_011525362.1
XM_011527061.2	288	Intron			XP_011525363.1
XM_011527062.2	288	Intron			XP_011525364.1
XM_011527063.2	288	Intron			XP_011525365.1
XM_011527064.2	288	Intron			XP_011525366.1
XM_017026918.1	288	Intron			XP_016882407.1
XM_017026919.1	288	Intron			XP_016882408.1
XM_017026920.1	288	Intron			XP_016882409.1
XM_017026921.1	288	Intron			XP_016882410.1
XM_017026922.1	288	Intron			XP_016882411.1
XM_017026923.1	288	Intron			XP_016882412.1

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