Product Details

SNP ID
rs200489306
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:32211819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATTGGACGGCAGCTGCCTGCAG[A/G]TGCTCCCAGCTATATCCAGTGAGTG
Phenotype
MIM: 610162 MIM: 603911
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC28B PubMed Links

Gene Details

Gene
CCDC28B
Gene Name
coiled-coil domain containing 28B
There are no transcripts associated with this gene.

Gene
DCDC2B
Gene Name
doublecortin domain containing 2B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099434.1 658 Missense Mutation GAT,GGT D126G NP_001092904.1
XM_017000413.1 658 Missense Mutation GAT,GGT D126G XP_016855902.1
XM_017000414.1 658 Intron XP_016855903.1
Gene
EIF3I
Gene Name
eukaryotic translation initiation factor 3 subunit I
There are no transcripts associated with this gene.

Gene
IQCC
Gene Name
IQ motif containing C
There are no transcripts associated with this gene.

Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 658 Intron NP_061991.3
XM_011541795.2 658 Intron XP_011540097.1
XM_017001812.1 658 Intron XP_016857301.1
XM_017001813.1 658 Intron XP_016857302.1
XM_017001814.1 658 Intron XP_016857303.1
XM_017001815.1 658 Intron XP_016857304.1
XM_017001816.1 658 Intron XP_016857305.1
XM_017001817.1 658 Intron XP_016857306.1
XM_017001818.1 658 Intron XP_016857307.1
XM_017001819.1 658 Intron XP_016857308.1
XM_017001820.1 658 Intron XP_016857309.1
XM_017001821.1 658 Intron XP_016857310.1
XM_017001822.1 658 Intron XP_016857311.1
XM_017001823.1 658 Intron XP_016857312.1
XM_017001824.1 658 Intron XP_016857313.1
XM_017001825.1 658 Intron XP_016857314.1
XM_017001826.1 658 Intron XP_016857315.1
XM_017001827.1 658 Intron XP_016857316.1
XM_017001828.1 658 Intron XP_016857317.1
XM_017001829.1 658 Intron XP_016857318.1
XM_017001830.1 658 Intron XP_016857319.1
XM_017001831.1 658 Intron XP_016857320.1

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