Product Details

SNP ID

rs1043327

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18444162 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCTTGCTGGAGCAGAGACCCTGCCC[A/G]AGGAGGAGAGGCTGGGGAAAGGGGT

Phenotype

MIM: 600284 MIM: 611670 MIM: 607391

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ELL PubMed Links

Additional Information

For this assay, SNP(s) [rs80253247] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ELL

Gene Name

elongation factor for RNA polymerase II

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006532.3	1704	UTR 3			NP_006523.1
XM_011528330.2	1704	Intron			XP_011526632.2
XM_017027335.1	1704	UTR 3			XP_016882824.1
XM_017027336.1	1704	UTR 3			XP_016882825.1
XM_017027337.1	1704	UTR 3			XP_016882826.1

Gene

ISYNA1

Gene Name

inositol-3-phosphate synthase 1

There are no transcripts associated with this gene.

Gene

SSBP4

Gene Name

single stranded DNA binding protein 4

There are no transcripts associated with this gene.

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