Product Details

SNP ID

rs12386703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92528488 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCACCCTAGCGCCGCAAAGGACCCG[C/G]GACCCGGCAGGCCGAGGACGTCGGA

Phenotype

MIM: 602136

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PEX1 PubMed Links

Gene Details

Gene

PEX1

Gene Name

peroxisomal biogenesis factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000466.2	44	UTR 5			NP_000457.1
NM_001282677.1	44	UTR 5			NP_001269606.1
NM_001282678.1	44	UTR 5			NP_001269607.1
XM_017012319.1	44	Intron			XP_016867808.1

Gene

RBM48

Gene Name

RNA binding motif protein 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032120.3	44	Intron			NP_115496.2
XM_005250636.4	44	Intron			XP_005250693.1
XM_006716149.3	44	Intron			XP_006716212.1
XM_006716150.3	44	Intron			XP_006716213.1
XM_017012709.1	44	Intron			XP_016868198.1

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