Product Details

SNP ID
rs144102538
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:32737403 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAACCATTGTTTGGGGAAACAATT[A/G]ATTACCTGTGGAGAAGAAAGACGTA
Phenotype
MIM: 604297
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PAXBP1 PubMed Links

Gene Details

Gene
PAXBP1
Gene Name
PAX3 and PAX7 binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013329.3 2677 Intron NP_037461.2
NM_016631.3 2677 Silent Mutation ATC,ATT I829I NP_057715.2
XM_006724066.1 2677 Silent Mutation ATC,ATT I794I XP_006724129.1
XM_011529804.2 2677 Intron XP_011528106.1
Gene
PAXBP1-AS1
Gene Name
PAXBP1 antisense RNA 1
There are no transcripts associated with this gene.

Gene
SYNJ1
Gene Name
synaptojanin 1
There are no transcripts associated with this gene.

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