Product Details

SNP ID
rs200794172
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:679021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACAAGGAGGACCTGAAGGACACC[C/T]ATGCCTCCCTGGGTAGGTACCCAGG
Phenotype
MIM: 601519 MIM: 160782 MIM: 180072
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP5I PubMed Links

Gene Details

Gene
ATP5I
Gene Name
ATP synthase, H+ transporting, mitochondrial Fo complex subunit E
There are no transcripts associated with this gene.

Gene
MFSD7
Gene Name
major facilitator superfamily domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001294341.1 440 Intron NP_001281270.1
NM_001294342.1 440 Intron NP_001281271.1
NM_032219.3 440 Intron NP_115595.2
XM_005272297.1 440 Intron XP_005272354.1
XM_005272299.4 440 Intron XP_005272356.1
XM_006713918.1 440 Intron XP_006713981.1
XM_006713919.1 440 Intron XP_006713982.1
XM_011513568.1 440 Intron XP_011511870.1
XM_011513571.1 440 Intron XP_011511873.1
XM_011513572.1 440 Intron XP_011511874.1
XM_011513573.2 440 Intron XP_011511875.1
XM_011513574.1 440 Intron XP_011511876.1
XM_011513575.2 440 Intron XP_011511877.1
XM_017008700.1 440 Intron XP_016864189.1
Gene
MYL5
Gene Name
myosin light chain 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002477.1 440 Missense Mutation CAT,TAT H59Y NP_002468.1
XM_006713886.2 440 Missense Mutation CAT,TAT H214Y XP_006713949.1
XM_017008245.1 440 Missense Mutation CAT,TAT H59Y XP_016863734.1
XM_017008246.1 440 Missense Mutation CAT,TAT H59Y XP_016863735.1
XM_017008247.1 440 Missense Mutation CAT,TAT H18Y XP_016863736.1
XM_017008248.1 440 Missense Mutation CAT,TAT H18Y XP_016863737.1
Gene
PDE6B
Gene Name
phosphodiesterase 6B
There are no transcripts associated with this gene.

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