Product Details

SNP ID
rs141330031
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:32211272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTGTGATCTATCTGTCCTTTCAG[C/T]TATTTACCCCATAGAGGGAAGGACC
Phenotype
MIM: 610162
Polymorphism
C/T, 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_001099434.1 335 Silent Mutation CAC,CAT H89H NP_001092904.1
XM_017000413.1 335 Silent Mutation CAC,CAT H89H XP_016855902.1
XM_017000414.1 335 Missense Mutation GCT,GTT A10V XP_016855903.1
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_019118.4 335 Intron NP_061991.3
XM_011541795.2 335 Intron XP_011540097.1
XM_017001812.1 335 Intron XP_016857301.1
XM_017001813.1 335 Intron XP_016857302.1
XM_017001814.1 335 Intron XP_016857303.1
XM_017001815.1 335 Intron XP_016857304.1
XM_017001816.1 335 Intron XP_016857305.1
XM_017001817.1 335 Intron XP_016857306.1
XM_017001818.1 335 Intron XP_016857307.1
XM_017001819.1 335 Intron XP_016857308.1
XM_017001820.1 335 Intron XP_016857309.1
XM_017001821.1 335 Intron XP_016857310.1
XM_017001822.1 335 Intron XP_016857311.1
XM_017001823.1 335 Intron XP_016857312.1
XM_017001824.1 335 Intron XP_016857313.1
XM_017001825.1 335 Intron XP_016857314.1
XM_017001826.1 335 Intron XP_016857315.1
XM_017001827.1 335 Intron XP_016857316.1
XM_017001828.1 335 Intron XP_016857317.1
XM_017001829.1 335 Intron XP_016857318.1
XM_017001830.1 335 Intron XP_016857319.1
XM_017001831.1 335 Intron XP_016857320.1

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