Product Details

SNP ID
rs141782543
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:32206546 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCAGACCTGGAAAGCAGGAGACA[A/G]GGTAGCAAATCCAGAGCAGGGGCTG
Phenotype
MIM: 610162 MIM: 608676
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
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_001160042.1 271 Missense Mutation AAG,AGG K155R NP_001153514.1
NM_018134.2 271 Missense Mutation AAG,AGG K75R NP_060604.2
Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 271 Intron NP_061991.3
XM_011541795.2 271 Intron XP_011540097.1
XM_017001812.1 271 Intron XP_016857301.1
XM_017001813.1 271 Intron XP_016857302.1
XM_017001814.1 271 Intron XP_016857303.1
XM_017001815.1 271 Intron XP_016857304.1
XM_017001816.1 271 Intron XP_016857305.1
XM_017001817.1 271 Intron XP_016857306.1
XM_017001818.1 271 Intron XP_016857307.1
XM_017001819.1 271 Intron XP_016857308.1
XM_017001820.1 271 Intron XP_016857309.1
XM_017001821.1 271 Intron XP_016857310.1
XM_017001822.1 271 Intron XP_016857311.1
XM_017001823.1 271 Intron XP_016857312.1
XM_017001824.1 271 Intron XP_016857313.1
XM_017001825.1 271 Intron XP_016857314.1
XM_017001826.1 271 Intron XP_016857315.1
XM_017001827.1 271 Intron XP_016857316.1
XM_017001828.1 271 Intron XP_016857317.1
XM_017001829.1 271 Intron XP_016857318.1
XM_017001830.1 271 Intron XP_016857319.1
XM_017001831.1 271 Intron XP_016857320.1
Gene
TXLNA
Gene Name
taxilin alpha
There are no transcripts associated with this gene.

View Full Product Details