Product Details

SNP ID

rs147714242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3931885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTACGTATCAACCCCCTCAACA[C/T]GCCTGTGGCTCTGACACGGGGGGAT

Phenotype

MIM: 606157 MIM: 612489

Polymorphism

C/T, 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	3032	Intron			NP_001311120.1
NM_001324192.1	3032	Intron			NP_001311121.1
NM_001324193.1	3032	Intron			NP_001311122.1
NM_024960.5	3032	Intron			NP_079236.3
NM_153638.3	3032	Intron			NP_705902.2
NM_153640.3	3032	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	3032	UTR 3			NP_001127809.1
NM_001134338.2	3032	UTR 3			NP_001127810.1
NM_001321749.1	3032	UTR 3			NP_001308678.1
NM_007219.4	3032	UTR 3			NP_009150.1
XM_011529145.2	3032	UTR 3			XP_011527447.1
XM_011529146.2	3032	UTR 3			XP_011527448.1
XM_011529147.2	3032	Intron			XP_011527449.1
XM_017027620.1	3032	UTR 3			XP_016883109.1
XM_017027621.1	3032	UTR 3			XP_016883110.1
XM_017027622.1	3032	Intron			XP_016883111.1

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