Product Details

SNP ID
rs2230767
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:32631077 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATCTACTGGAGGGCTGGTGCCGGGC[A/G]GGAGCAGAGGGACAGGAGGTGGAGG
Phenotype
MIM: 604297
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SYNJ1 PubMed Links

Gene Details

Gene
SYNJ1
Gene Name
synaptojanin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160302.1 4631 UTR 3 NP_001153774.1
NM_001160306.1 4631 Missense Mutation CCG,CTG P1500L NP_001153778.1
NM_003895.3 4631 Missense Mutation CCG,CTG P1586L NP_003886.3
NM_203446.2 4631 UTR 3 NP_982271.2
XM_017028494.1 4631 Missense Mutation CCG,CTG P1531L XP_016883983.1
XM_017028495.1 4631 Missense Mutation CCG,CTG P1581L XP_016883984.1
XM_017028496.1 4631 Missense Mutation CCG,CTG P1518L XP_016883985.1
XM_017028497.1 4631 Missense Mutation CCG,CTG P1570L XP_016883986.1
XM_017028498.1 4631 Missense Mutation CCG,CTG P1505L XP_016883987.1
XM_017028499.1 4631 Missense Mutation CCG,CTG P1539L XP_016883988.1
XM_017028500.1 4631 UTR 3 XP_016883989.1
XM_017028501.1 4631 UTR 3 XP_016883990.1
XM_017028502.1 4631 UTR 3 XP_016883991.1
XM_017028503.1 4631 UTR 3 XP_016883992.1
XM_017028504.1 4631 UTR 3 XP_016883993.1
XM_017028505.1 4631 UTR 3 XP_016883994.1

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