Product Details

SNP ID
rs148109001
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:32206710 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGGCTTCAGATGAAGCAGAAC[A/G]GGAAACCCAGCCAAGAGAAGACCAG
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_001160042.1 435 Missense Mutation AGG,GGG R210G NP_001153514.1
NM_018134.2 435 Missense Mutation AGG,GGG R130G NP_060604.2
Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 435 Intron NP_061991.3
XM_011541795.2 435 Intron XP_011540097.1
XM_017001812.1 435 Intron XP_016857301.1
XM_017001813.1 435 Intron XP_016857302.1
XM_017001814.1 435 Intron XP_016857303.1
XM_017001815.1 435 Intron XP_016857304.1
XM_017001816.1 435 Intron XP_016857305.1
XM_017001817.1 435 Intron XP_016857306.1
XM_017001818.1 435 Intron XP_016857307.1
XM_017001819.1 435 Intron XP_016857308.1
XM_017001820.1 435 Intron XP_016857309.1
XM_017001821.1 435 Intron XP_016857310.1
XM_017001822.1 435 Intron XP_016857311.1
XM_017001823.1 435 Intron XP_016857312.1
XM_017001824.1 435 Intron XP_016857313.1
XM_017001825.1 435 Intron XP_016857314.1
XM_017001826.1 435 Intron XP_016857315.1
XM_017001827.1 435 Intron XP_016857316.1
XM_017001828.1 435 Intron XP_016857317.1
XM_017001829.1 435 Intron XP_016857318.1
XM_017001830.1 435 Intron XP_016857319.1
XM_017001831.1 435 Intron XP_016857320.1
Gene
TXLNA
Gene Name
taxilin alpha
There are no transcripts associated with this gene.

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