Product Details

SNP ID

rs3806439

Assay Type

Functionally Tested

NCBI dbSNP Submissions

28

Location

Chr.1:228143802 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

AAGCGCAGGGGCAAATTCTGCGGGT[A/G]GGAGAGCCAGGAGGGCATGGGGTGC

Phenotype

MIM: 608803 MIM: 139270

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

GJC2 PubMed Links

Additional Information

For this assay, SNP(s) [rs112179347] are located under a probe 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

GJC2

Gene Name

gap junction protein gamma 2

There are no transcripts associated with this gene.

Gene

GUK1

Gene Name

guanylate kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000858.5	1950	Intron			NP_000849.1
NM_001159390.1	1950	Intron			NP_001152862.1
NM_001159391.1	1950	Intron			NP_001152863.1
NM_001242839.1	1950	Intron			NP_001229768.1
NM_001242840.1	1950	Intron			NP_001229769.1
XM_005273103.3	1950	Intron			XP_005273160.1
XM_005273104.4	1950	Intron			XP_005273161.1
XM_005273105.3	1950	Intron			XP_005273162.1
XM_005273106.2	1950	Intron			XP_005273163.1
XM_011544174.2	1950	UTR 5			XP_011542476.1
XM_017001091.1	1950	Intron			XP_016856580.1
XM_017001092.1	1950	Intron			XP_016856581.1
XM_017001093.1	1950	Intron			XP_016856582.1
XM_017001094.1	1950	Intron			XP_016856583.1
XM_017001095.1	1950	Intron			XP_016856584.1
XM_017001096.1	1950	Intron			XP_016856585.1

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