Product Details

SNP ID

rs139214277

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:156199926 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTTCTACGTGTTTGGTGTGGCA[A/G]TGACAATGATGATCCGTGTCAGTGT

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	966	Missense Mutation	ATG,GTG	M27V	NP_001273113.1
NM_014655.3	966	Missense Mutation	ATG,GTG	M27V	NP_055470.1
XM_006711657.3	966	Missense Mutation	ATG,GTG	M27V	XP_006711720.1
XM_011510180.1	966	Missense Mutation	ATG,GTG	M27V	XP_011508482.1
XM_011510181.1	966	Missense Mutation	ATG,GTG	M27V	XP_011508483.1
XM_017002904.1	966	Missense Mutation	ATG,GTG	M27V	XP_016858393.1
XM_017002905.1	966	Missense Mutation	ATG,GTG	M27V	XP_016858394.1
XM_017002906.1	966	Missense Mutation	ATG,GTG	M27V	XP_016858395.1
XM_017002907.1	966	Missense Mutation	ATG,GTG	M27V	XP_016858396.1
XM_017002908.1	966	Missense Mutation	ATG,GTG	M27V	XP_016858397.1

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