Product Details

SNP ID
rs146901975
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3932090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAAACATTCTCTTTCCTATTAG[A/G]GCCCCATAACAGAGGTGACATCTGT
Phenotype
MIM: 606157 MIM: 612489
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PANK2 PubMed Links

Gene Details

Gene
PANK2
Gene Name
pantothenate kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324191.1 2827 Intron NP_001311120.1
NM_001324192.1 2827 Intron NP_001311121.1
NM_001324193.1 2827 Intron NP_001311122.1
NM_024960.5 2827 Intron NP_079236.3
NM_153638.3 2827 Intron NP_705902.2
NM_153640.3 2827 Intron NP_705904.1
Gene
RNF24
Gene Name
ring finger protein 24
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134337.2 2827 UTR 3 NP_001127809.1
NM_001134338.2 2827 UTR 3 NP_001127810.1
NM_001321749.1 2827 UTR 3 NP_001308678.1
NM_007219.4 2827 UTR 3 NP_009150.1
XM_011529145.2 2827 UTR 3 XP_011527447.1
XM_011529146.2 2827 UTR 3 XP_011527448.1
XM_011529147.2 2827 Intron XP_011527449.1
XM_017027620.1 2827 UTR 3 XP_016883109.1
XM_017027621.1 2827 UTR 3 XP_016883110.1
XM_017027622.1 2827 Intron XP_016883111.1

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