Product Details

SNP ID

rs2228354

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:679989 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCGGGGCCCATCAACTTCACCATGT[C/T]TCTGAACCTGTTTGGGGAGAAGCTG

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	528	Intron			NP_001281270.1
NM_001294342.1	528	Intron			NP_001281271.1
NM_032219.3	528	Intron			NP_115595.2
XM_005272297.1	528	Intron			XP_005272354.1
XM_005272299.4	528	Intron			XP_005272356.1
XM_006713918.1	528	Intron			XP_006713981.1
XM_006713919.1	528	Intron			XP_006713982.1
XM_011513568.1	528	Intron			XP_011511870.1
XM_011513571.1	528	Intron			XP_011511873.1
XM_011513572.1	528	Intron			XP_011511874.1
XM_011513573.2	528	Intron			XP_011511875.1
XM_011513574.1	528	Intron			XP_011511876.1
XM_011513575.2	528	Intron			XP_011511877.1
XM_017008700.1	528	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	528	Missense Mutation	TCT,TTT	S88F	NP_002468.1
XM_006713886.2	528	Missense Mutation	TCT,TTT	S243F	XP_006713949.1
XM_017008245.1	528	Missense Mutation	TCT,TTT	S88F	XP_016863734.1
XM_017008246.1	528	Missense Mutation	TCT,TTT	S88F	XP_016863735.1
XM_017008247.1	528	Missense Mutation	TCT,TTT	S47F	XP_016863736.1
XM_017008248.1	528	Missense Mutation	TCT,TTT	S47F	XP_016863737.1

Gene

PDE6B

Gene Name

phosphodiesterase 6B

There are no transcripts associated with this gene.

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