Product Details

SNP ID

rs2056943

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:15524332 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGCATGTCAAATCTTTGAGAAGAA[C/T]TCATGACGGAACCACACCACTGTTG

Phenotype

MIM: 607145 MIM: 601594

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DTNBP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs117610176] 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

DTNBP1

Gene Name

dystrobrevin binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271667.1	1194	Intron			NP_001258596.1
NM_001271668.1	1194	Intron			NP_001258597.1
NM_001271669.1	1194	Intron			NP_001258598.1
NM_032122.4	1194	Intron			NP_115498.2
NM_183040.2	1194	UTR 3			NP_898861.1
XM_005249447.4	1194	Intron			XP_005249504.1
XM_011514936.2	1194	Intron			XP_011513238.1
XM_011514937.2	1194	Intron			XP_011513239.1
XM_017011348.1	1194	Intron			XP_016866837.1
XM_017011349.1	1194	Intron			XP_016866838.1

Gene

JARID2

Gene Name

jumonji and AT-rich interaction domain containing 2

There are no transcripts associated with this gene.

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