Product Details

SNP ID
rs147598121
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:32728411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGGAGAGGAGGAAGGGCTCGGGA[A/C]GGTCGGCTCGCCGAGCCAACCAGGT
Phenotype
MIM: 604297
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PAXBP1 PubMed Links

Gene Details

Gene
PAXBP1
Gene Name
PAX3 and PAX7 binding protein 1
There are no transcripts associated with this gene.

Gene
PAXBP1-AS1
Gene Name
PAXBP1 antisense RNA 1
There are no transcripts associated with this gene.

Gene
SYNJ1
Gene Name
synaptojanin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160302.1 Intron NP_001153774.1
NM_001160306.1 Intron NP_001153778.1
NM_003895.3 Intron NP_003886.3
NM_203446.2 Intron NP_982271.2
XM_017028494.1 Intron XP_016883983.1
XM_017028495.1 Intron XP_016883984.1
XM_017028496.1 Intron XP_016883985.1
XM_017028497.1 Intron XP_016883986.1
XM_017028498.1 Intron XP_016883987.1
XM_017028499.1 Intron XP_016883988.1
XM_017028500.1 Intron XP_016883989.1
XM_017028501.1 Intron XP_016883990.1
XM_017028502.1 Intron XP_016883991.1
XM_017028503.1 Intron XP_016883992.1
XM_017028504.1 Intron XP_016883993.1
XM_017028505.1 Intron XP_016883994.1

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