Product Details

SNP ID
rs143409626
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:127675996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCGCTGCGAGGCCAACACCTTC[A/G]ATGGTGAGCGCTGCCTCTATGGGGC
Phenotype
MIM: 608308 MIM: 616627
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ABTB1 PubMed Links

Gene Details

Gene
ABTB1
Gene Name
ankyrin repeat and BTB domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032548.3 252 UTR 5 NP_115937.1
NM_172027.2 252 Missense Mutation AAT,GAT N68D NP_742024.1
XM_006713769.3 252 Missense Mutation AAT,GAT N70D XP_006713832.1
XM_011513213.1 252 UTR 5 XP_011511515.1
XM_017007285.1 252 Missense Mutation AAT,GAT N68D XP_016862774.1
XM_017007286.1 252 Missense Mutation AAT,GAT N43D XP_016862775.1
XM_017007287.1 252 UTR 5 XP_016862776.1
XM_017007288.1 252 UTR 5 XP_016862777.1
Gene
PODXL2
Gene Name
podocalyxin like 2
There are no transcripts associated with this gene.

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