Product Details

SNP ID

rs150272765

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39391485 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTGCTGGTGTATCGGGTCCTAG[C/T]TCGGCTGGCGGCCCGGGTCCCCAGC

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	183	Silent Mutation	AGC,AGT	S42S	NP_001304699.1
NM_017592.2	183	Silent Mutation	AGC,AGT	S42S	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	183	Intron			NP_001243755.1
NM_019088.3	183	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	183	Intron			NP_001290543.1
NM_018028.3	183	Intron			NP_060498.2
XM_011527057.2	183	Intron			XP_011525359.1
XM_011527060.2	183	Intron			XP_011525362.1
XM_011527061.2	183	Intron			XP_011525363.1
XM_011527062.2	183	Intron			XP_011525364.1
XM_011527063.2	183	Intron			XP_011525365.1
XM_011527064.2	183	Intron			XP_011525366.1
XM_017026918.1	183	Intron			XP_016882407.1
XM_017026919.1	183	Intron			XP_016882408.1
XM_017026920.1	183	Intron			XP_016882409.1
XM_017026921.1	183	Intron			XP_016882410.1
XM_017026922.1	183	Intron			XP_016882411.1
XM_017026923.1	183	Intron			XP_016882412.1

View Full Product Details