Product Details

SNP ID

rs143567883

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:156200398 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGATGGACTTCGCGGCTTCTATC[A/G]AGGCTATGTGGCTTCACTGCTTACC

Phenotype

MIM: 610824

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC25A44 PubMed Links

Gene Details

Gene

SLC25A44

Gene Name

solute carrier family 25 member 44

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286184.1	1438	Missense Mutation	CAA,CGA	Q184R	NP_001273113.1
NM_014655.3	1438	Missense Mutation	CAA,CGA	Q184R	NP_055470.1
XM_006711657.3	1438	Missense Mutation	CAA,CGA	Q184R	XP_006711720.1
XM_011510180.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_011508482.1
XM_011510181.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_011508483.1
XM_017002904.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_016858393.1
XM_017002905.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_016858394.1
XM_017002906.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_016858395.1
XM_017002907.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_016858396.1
XM_017002908.1	1438	Missense Mutation	CAA,CGA	Q184R	XP_016858397.1

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