Product Details

SNP ID
rs41311187
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:32206588 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGGCTGTGGAACCACTTCCCAT[A/G]TGAAGAGTCTGAGGGAGAGGCCACC
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_001160042.1 313 Missense Mutation TAT,TGT Y169C NP_001153514.1
NM_018134.2 313 Missense Mutation TAT,TGT Y89C NP_060604.2
Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 313 Intron NP_061991.3
XM_011541795.2 313 Intron XP_011540097.1
XM_017001812.1 313 Intron XP_016857301.1
XM_017001813.1 313 Intron XP_016857302.1
XM_017001814.1 313 Intron XP_016857303.1
XM_017001815.1 313 Intron XP_016857304.1
XM_017001816.1 313 Intron XP_016857305.1
XM_017001817.1 313 Intron XP_016857306.1
XM_017001818.1 313 Intron XP_016857307.1
XM_017001819.1 313 Intron XP_016857308.1
XM_017001820.1 313 Intron XP_016857309.1
XM_017001821.1 313 Intron XP_016857310.1
XM_017001822.1 313 Intron XP_016857311.1
XM_017001823.1 313 Intron XP_016857312.1
XM_017001824.1 313 Intron XP_016857313.1
XM_017001825.1 313 Intron XP_016857314.1
XM_017001826.1 313 Intron XP_016857315.1
XM_017001827.1 313 Intron XP_016857316.1
XM_017001828.1 313 Intron XP_016857317.1
XM_017001829.1 313 Intron XP_016857318.1
XM_017001830.1 313 Intron XP_016857319.1
XM_017001831.1 313 Intron XP_016857320.1
Gene
TXLNA
Gene Name
taxilin alpha
There are no transcripts associated with this gene.

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