Product Details

SNP ID
rs1105447
Assay Type
Functionally Tested
NCBI dbSNP Submissions
28
Location
Chr.1:228140782 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCTGGGCGGATGGAGCCGGCTATTC[C/T]GGGGCTCCCAGGATTCTGCCTACTC
Phenotype
MIM: 608803 MIM: 139270
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GJC2 PubMed Links

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 Intron NP_000849.1
NM_001159390.1 Intron NP_001152862.1
NM_001159391.1 Intron NP_001152863.1
NM_001242839.1 Intron NP_001229768.1
NM_001242840.1 Intron NP_001229769.1
XM_005273103.3 Intron XP_005273160.1
XM_005273104.4 Intron XP_005273161.1
XM_005273105.3 Intron XP_005273162.1
XM_005273106.2 Intron XP_005273163.1
XM_011544174.2 Intron XP_011542476.1
XM_017001091.1 Intron XP_016856580.1
XM_017001092.1 Intron XP_016856581.1
XM_017001093.1 Intron XP_016856582.1
XM_017001094.1 Intron XP_016856583.1
XM_017001095.1 Intron XP_016856584.1
XM_017001096.1 Intron XP_016856585.1

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