Product Details

SNP ID

rs148085889

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39391451 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCATCCCAGCAGCAAGCTTCAG[C/T]GGCTTCCTCAGCTGCTGGTGTATCG

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	149	Missense Mutation	GCG,GTG	A31V	NP_001304699.1
NM_017592.2	149	Missense Mutation	GCG,GTG	A31V	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	149	Intron			NP_001243755.1
NM_019088.3	149	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	149	Intron			NP_001290543.1
NM_018028.3	149	Intron			NP_060498.2
XM_011527057.2	149	Intron			XP_011525359.1
XM_011527060.2	149	Intron			XP_011525362.1
XM_011527061.2	149	Intron			XP_011525363.1
XM_011527062.2	149	Intron			XP_011525364.1
XM_011527063.2	149	Intron			XP_011525365.1
XM_011527064.2	149	Intron			XP_011525366.1
XM_017026918.1	149	Intron			XP_016882407.1
XM_017026919.1	149	Intron			XP_016882408.1
XM_017026920.1	149	Intron			XP_016882409.1
XM_017026921.1	149	Intron			XP_016882410.1
XM_017026922.1	149	Intron			XP_016882411.1
XM_017026923.1	149	Intron			XP_016882412.1

View Full Product Details