Product Details

SNP ID

rs138303744

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39453423 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGAGCCTGAGGACGAAGAGGAGG[A/T]GGAAGAGGAGGAGGAATACGATGAG

Phenotype

MIM: 602102

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

SUPT5H PubMed Links

Additional Information

For this assay, SNP(s) [rs1130180] 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

SUPT5H

Gene Name

SPT5 homolog, DSIF elongation factor subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001111020.2	244	Missense Mutation	GAG,GTG	E48V	NP_001104490.1
NM_001130824.1	244	Missense Mutation	GAG,GTG	E48V	NP_001124296.1
NM_001130825.1	244	Missense Mutation	GAG,GTG	E48V	NP_001124297.1
NM_001319990.1	244	Missense Mutation	GAG,GTG	E48V	NP_001306919.1
NM_001319991.1	244	Missense Mutation	GAG,GTG	E48V	NP_001306920.1
NM_003169.3	244	Missense Mutation	GAG,GTG	E48V	NP_003160.2
XM_017027174.1	244	Intron			XP_016882663.1

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