Product Details

SNP ID
rs61753241
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:136822784 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCCTGCGCCACCGCGCAGCACT[A/G]CGGCATCGCGGGTGAGGCGGCGCCG
Phenotype
MIM: 601757
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PEX7 PubMed Links

Gene Details

Gene
PEX7
Gene Name
peroxisomal biogenesis factor 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000288.3 565 Missense Mutation TAC,TGC Y40C NP_000279.1
XM_005267019.4 565 Intron XP_005267076.1
XM_006715502.1 565 Missense Mutation TAC,TGC Y40C XP_006715565.1
XM_017010934.1 565 Missense Mutation TAC,TGC Y40C XP_016866423.1

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