Product Details

SNP ID

rs77119705

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:36880483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTTCAGTTTTATGTGAAGTGATT[A/G]GGGAGTGTGAGGTAAACAGTAATTC

Phenotype

MIM: 608667

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

NIPBL PubMed Links

Additional Information

For this assay, SNP(s) [rs139721711] 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

NIPBL

Gene Name

NIPBL, cohesin loading factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015384.4		Intron			NP_056199.2
NM_133433.3		Intron			NP_597677.2
XM_005248280.3		Intron			XP_005248337.1
XM_005248282.4		Intron			XP_005248339.3
XM_006714467.2		Intron			XP_006714530.1
XM_006714468.2		Intron			XP_006714531.1
XM_011514015.1		Intron			XP_011512317.1
XM_017009329.1		Intron			XP_016864818.1
XM_017009330.1		Intron			XP_016864819.1
XM_017009331.1		Intron			XP_016864820.1

Gene

NIPBL-AS1

Gene Name

NIPBL antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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