Product Details

SNP ID
rs199902105
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:32211770 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACATGGGTTTCAGGGTCCTCCC[A/G]TGACTCGCCACTTGTGTGATGGGGC
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_001099434.1 609 Missense Mutation ATG,GTG M110V NP_001092904.1
XM_017000413.1 609 Missense Mutation ATG,GTG M110V XP_016855902.1
XM_017000414.1 609 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_019118.4 609 Intron NP_061991.3
XM_011541795.2 609 Intron XP_011540097.1
XM_017001812.1 609 Intron XP_016857301.1
XM_017001813.1 609 Intron XP_016857302.1
XM_017001814.1 609 Intron XP_016857303.1
XM_017001815.1 609 Intron XP_016857304.1
XM_017001816.1 609 Intron XP_016857305.1
XM_017001817.1 609 Intron XP_016857306.1
XM_017001818.1 609 Intron XP_016857307.1
XM_017001819.1 609 Intron XP_016857308.1
XM_017001820.1 609 Intron XP_016857309.1
XM_017001821.1 609 Intron XP_016857310.1
XM_017001822.1 609 Intron XP_016857311.1
XM_017001823.1 609 Intron XP_016857312.1
XM_017001824.1 609 Intron XP_016857313.1
XM_017001825.1 609 Intron XP_016857314.1
XM_017001826.1 609 Intron XP_016857315.1
XM_017001827.1 609 Intron XP_016857316.1
XM_017001828.1 609 Intron XP_016857317.1
XM_017001829.1 609 Intron XP_016857318.1
XM_017001830.1 609 Intron XP_016857319.1
XM_017001831.1 609 Intron XP_016857320.1

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