Product Details

SNP ID
rs199858525
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:32206726 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCAGAACAGGAAACCCAGCCAAG[A/G]GAAGACCAGAGACACGACAAGGATG
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_001160042.1 451 Missense Mutation GAG,GGG E215G NP_001153514.1
NM_018134.2 451 Missense Mutation GAG,GGG E135G NP_060604.2
Gene
TMEM234
Gene Name
transmembrane protein 234
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019118.4 451 Intron NP_061991.3
XM_011541795.2 451 Intron XP_011540097.1
XM_017001812.1 451 Intron XP_016857301.1
XM_017001813.1 451 Intron XP_016857302.1
XM_017001814.1 451 Intron XP_016857303.1
XM_017001815.1 451 Intron XP_016857304.1
XM_017001816.1 451 Intron XP_016857305.1
XM_017001817.1 451 Intron XP_016857306.1
XM_017001818.1 451 Intron XP_016857307.1
XM_017001819.1 451 Intron XP_016857308.1
XM_017001820.1 451 Intron XP_016857309.1
XM_017001821.1 451 Intron XP_016857310.1
XM_017001822.1 451 Intron XP_016857311.1
XM_017001823.1 451 Intron XP_016857312.1
XM_017001824.1 451 Intron XP_016857313.1
XM_017001825.1 451 Intron XP_016857314.1
XM_017001826.1 451 Intron XP_016857315.1
XM_017001827.1 451 Intron XP_016857316.1
XM_017001828.1 451 Intron XP_016857317.1
XM_017001829.1 451 Intron XP_016857318.1
XM_017001830.1 451 Intron XP_016857319.1
XM_017001831.1 451 Intron XP_016857320.1
Gene
TXLNA
Gene Name
taxilin alpha
There are no transcripts associated with this gene.

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