Product Details

SNP ID
rs200368399
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:32205241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACGCCGAGCCTGAGGAGCAGTCCG[A/C]TGCGTAGGCGTCCCACGCAGGCCCA
Phenotype
MIM: 610162 MIM: 608676
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCDC28B PubMed Links

Gene Details

Gene
CCDC28B
Gene Name
coiled-coil domain containing 28B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301011.1 2722 UTR 3 NP_001287940.1
NM_024296.4 2722 Missense Mutation GAT,GCT D199A NP_077272.2
XM_011542113.2 2722 UTR 3 XP_011540415.1
XM_017002306.1 2722 Intron XP_016857795.1
XM_017002307.1 2722 Missense Mutation GAT,GCT D199A XP_016857796.1
XM_017002308.1 2722 UTR 3 XP_016857797.1
XM_017002309.1 2722 UTR 3 XP_016857798.1
Gene
DCDC2B
Gene Name
doublecortin domain containing 2B
There are no transcripts associated with this gene.

Gene
IQCC
Gene Name
IQ motif containing C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160042.1 2722 Intron NP_001153514.1
NM_018134.2 2722 Intron NP_060604.2
Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 2722 Intron NP_061991.3
XM_011541795.2 2722 UTR 3 XP_011540097.1
XM_017001812.1 2722 Intron XP_016857301.1
XM_017001813.1 2722 Intron XP_016857302.1
XM_017001814.1 2722 UTR 3 XP_016857303.1
XM_017001815.1 2722 UTR 3 XP_016857304.1
XM_017001816.1 2722 Intron XP_016857305.1
XM_017001817.1 2722 UTR 3 XP_016857306.1
XM_017001818.1 2722 UTR 3 XP_016857307.1
XM_017001819.1 2722 UTR 3 XP_016857308.1
XM_017001820.1 2722 Intron XP_016857309.1
XM_017001821.1 2722 UTR 3 XP_016857310.1
XM_017001822.1 2722 Intron XP_016857311.1
XM_017001823.1 2722 Intron XP_016857312.1
XM_017001824.1 2722 Intron XP_016857313.1
XM_017001825.1 2722 Intron XP_016857314.1
XM_017001826.1 2722 Intron XP_016857315.1
XM_017001827.1 2722 UTR 3 XP_016857316.1
XM_017001828.1 2722 UTR 3 XP_016857317.1
XM_017001829.1 2722 Intron XP_016857318.1
XM_017001830.1 2722 Intron XP_016857319.1
XM_017001831.1 2722 Intron XP_016857320.1
Gene
TXLNA
Gene Name
taxilin alpha
There are no transcripts associated with this gene.

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