Product Details

SNP ID
rs199999697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:152718824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCGGCTGGGGCGTGGTCAGAGC[C/T]CAGAAAGCGCTCGGTGCTCCCGCCG
Phenotype
MIM: 616495 MIM: 612941
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARL6IP6 PubMed Links

Gene Details

Gene
ARL6IP6
Gene Name
ADP ribosylation factor like GTPase 6 interacting protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152522.5 932 Missense Mutation CCC,CTC P67L NP_689735.1
XM_006712326.3 932 Intron XP_006712389.1
Gene
PRPF40A
Gene Name
pre-mRNA processing factor 40 homolog A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017892.3 932 Intron NP_060362.3
XM_005246676.4 932 Intron XP_005246733.3
XM_005246677.4 932 Intron XP_005246734.2
XM_011511446.2 932 Intron XP_011509748.1
XM_011511447.2 932 Intron XP_011509749.1
XM_011511448.2 932 Intron XP_011509750.1
XM_011511449.2 932 Intron XP_011509751.1
XM_017004453.1 932 Intron XP_016859942.1
XM_017004454.1 932 Intron XP_016859943.1
XM_017004455.1 932 Intron XP_016859944.1
XM_017004456.1 932 Intron XP_016859945.1
XM_017004457.1 932 Intron XP_016859946.1
XM_017004458.1 932 Intron XP_016859947.1
XM_017004459.1 932 Intron XP_016859948.1
XM_017004460.1 932 Intron XP_016859949.1
XM_017004461.1 932 Intron XP_016859950.1

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