Product Details

SNP ID

rs200563568

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39391409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAGTCGTAACGCACTTCCGGCGG[C/T]CTACGCGAGGAAGATGGCTGCATCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317770.1	107	Missense Mutation	GCC,GTC	A17V	NP_001304699.1
NM_017592.2	107	Missense Mutation	GCC,GTC	A17V	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	107	Intron			NP_001243755.1
NM_019088.3	107	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	107	Intron			NP_001290543.1
NM_018028.3	107	Intron			NP_060498.2
XM_011527057.2	107	Intron			XP_011525359.1
XM_011527060.2	107	Intron			XP_011525362.1
XM_011527061.2	107	Intron			XP_011525363.1
XM_011527062.2	107	Intron			XP_011525364.1
XM_011527063.2	107	Intron			XP_011525365.1
XM_011527064.2	107	Intron			XP_011525366.1
XM_017026918.1	107	Intron			XP_016882407.1
XM_017026919.1	107	Intron			XP_016882408.1
XM_017026920.1	107	Intron			XP_016882409.1
XM_017026921.1	107	Intron			XP_016882410.1
XM_017026922.1	107	Intron			XP_016882411.1
XM_017026923.1	107	Intron			XP_016882412.1

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