Product Details

SNP ID

rs141171144

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:73984110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCAGGGATGCCATCAGGCACCC[C/T]GTGTCCCACTCTTCCTCGTCCTGTG

Phenotype

MIM: 608326

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

STOML1 PubMed Links

Gene Details

Gene

STOML1

Gene Name

stomatin like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256672.1	2051	Missense Mutation	AGG,GGG	R341G	NP_001243601.1
NM_001256673.1	2051	Missense Mutation	AGG,GGG	R292G	NP_001243602.1
NM_001256674.1	2051	Missense Mutation	AGG,GGG	R291G	NP_001243603.1
NM_001256675.1	2051	Missense Mutation	AGG,GGG	R271G	NP_001243604.1
NM_001256676.1	2051	Missense Mutation	AGG,GGG	R254G	NP_001243605.1
NM_001256677.1	2051	Missense Mutation	AGG,GGG	R299G	NP_001243606.1
NM_001324226.1	2051	Missense Mutation	AGG,GGG	R185G	NP_001311155.1
NM_001324227.1	2051	Missense Mutation	AGG,GGG	R255G	NP_001311156.1
NM_001324228.1	2051	Missense Mutation	AGG,GGG	R255G	NP_001311157.1
NM_001324229.1	2051	Missense Mutation	AGG,GGG	R186G	NP_001311158.1
NM_001324230.1	2051	Missense Mutation	AGG,GGG	R300G	NP_001311159.1
NM_004809.4	2051	Missense Mutation	AGG,GGG	R342G	NP_004800.2
XM_005254792.4	2051	Missense Mutation	AGG,GGG	R300G	XP_005254849.1
XM_006720773.3	2051	Missense Mutation	AGG,GGG	R299G	XP_006720836.1

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