Product Details

SNP ID
rs200421362
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:32206714 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTTCAGATGAAGCAGAACAGGA[A/C]ACCCAGCCAAGAGAAGACCAGAGAC
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
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_001160042.1 439 Missense Mutation AAA,ACA K211T NP_001153514.1
NM_018134.2 439 Missense Mutation AAA,ACA K131T NP_060604.2
Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 439 Intron NP_061991.3
XM_011541795.2 439 Intron XP_011540097.1
XM_017001812.1 439 Intron XP_016857301.1
XM_017001813.1 439 Intron XP_016857302.1
XM_017001814.1 439 Intron XP_016857303.1
XM_017001815.1 439 Intron XP_016857304.1
XM_017001816.1 439 Intron XP_016857305.1
XM_017001817.1 439 Intron XP_016857306.1
XM_017001818.1 439 Intron XP_016857307.1
XM_017001819.1 439 Intron XP_016857308.1
XM_017001820.1 439 Intron XP_016857309.1
XM_017001821.1 439 Intron XP_016857310.1
XM_017001822.1 439 Intron XP_016857311.1
XM_017001823.1 439 Intron XP_016857312.1
XM_017001824.1 439 Intron XP_016857313.1
XM_017001825.1 439 Intron XP_016857314.1
XM_017001826.1 439 Intron XP_016857315.1
XM_017001827.1 439 Intron XP_016857316.1
XM_017001828.1 439 Intron XP_016857317.1
XM_017001829.1 439 Intron XP_016857318.1
XM_017001830.1 439 Intron XP_016857319.1
XM_017001831.1 439 Intron XP_016857320.1
Gene
TXLNA
Gene Name
taxilin alpha
There are no transcripts associated with this gene.

View Full Product Details