Product Details

SNP ID

rs3179087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18531770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGAGTCCGTGGAAACTGCAGGG[G/T]GGGATGCTTTATTTCACTGTGGCGG

Phenotype

MIM: 600284 MIM: 604840

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ELL PubMed Links

Gene Details

Gene

ELL

Gene Name

elongation factor for RNA polymerase II

There are no transcripts associated with this gene.

Gene

FKBP8

Gene Name

FK506 binding protein 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308373.1	1835	UTR 3			NP_001295302.1
NM_012181.4	1835	UTR 3			NP_036313.3
XM_011527863.1	1835	UTR 3			XP_011526165.1
XM_011527864.1	1835	UTR 3			XP_011526166.1

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