Product Details

SNP ID

rs140296020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:121341353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGCAGGAGATTCAGTGATGACC[A/G]TGGAGGCTTCTTTCAGAGCCCTGGA

Phenotype

MIM: 137350 MIM: 133090

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GSN PubMed Links

Gene Details

Gene

GSN

Gene Name

gelsolin

There are no transcripts associated with this gene.

Gene

STOM

Gene Name

stomatin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270526.1	742	UTR 3			NP_001257455.1
NM_001270527.1	742	Intron			NP_001257456.1
NM_004099.5	742	Missense Mutation	ACG,ATG	T239M	NP_004090.4
NM_198194.2	742	Missense Mutation	ACG,ATG	T74M	NP_937837.1

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