Product Details

SNP ID

rs140611222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:38400368 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGGCAAGGAGGAACAGAGCCAAG[A/T]TGGGCGATGCCTCTACACAGCTCTC

Phenotype

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

LETM2 PubMed Links

Gene Details

Gene

LETM2

Gene Name

leucine zipper and EF-hand containing transmembrane protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199659.2	904	Missense Mutation	ATG,TTG	M201L	NP_001186588.1
NM_001199660.2	904	Missense Mutation	ATG,TTG	M45L	NP_001186589.1
NM_001286787.1	904	Missense Mutation	ATG,TTG	M45L	NP_001273716.1
NM_001286819.1	904	Missense Mutation	ATG,TTG	M248L	NP_001273748.1
NM_001286821.1	904	Intron			NP_001273750.1
NM_144652.3	904	Missense Mutation	ATG,TTG	M153L	NP_653253.1
XM_006716291.3	904	Missense Mutation	ATG,TTG	M45L	XP_006716354.1
XM_011544406.1	904	Missense Mutation	ATG,TTG	M201L	XP_011542708.1
XM_011544407.1	904	Missense Mutation	ATG,TTG	M201L	XP_011542709.1
XM_011544408.2	904	Missense Mutation	ATG,TTG	M248L	XP_011542710.1
XM_011544409.2	904	Missense Mutation	ATG,TTG	M67L	XP_011542711.1
XM_011544410.2	904	Missense Mutation	ATG,TTG	M34L	XP_011542712.1
XM_017013051.1	904	Missense Mutation	ATG,TTG	M248L	XP_016868540.1
XM_017013052.1	904	Missense Mutation	ATG,TTG	M248L	XP_016868541.1
XM_017013053.1	904	Missense Mutation	ATG,TTG	M248L	XP_016868542.1
XM_017013054.1	904	Missense Mutation	ATG,TTG	M248L	XP_016868543.1
XM_017013055.1	904	Missense Mutation	ATG,TTG	M248L	XP_016868544.1
XM_017013056.1	904	Missense Mutation	ATG,TTG	M248L	XP_016868545.1
XM_017013057.1	904	Missense Mutation	ATG,TTG	M200L	XP_016868546.1

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