Product Details

SNP ID

rs17850681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:121341338 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATCGGAGCTGAAGGGCTGCAGGA[G/T]ATTCAGTGATGACCATGGAGGCTTC

Phenotype

MIM: 137350 MIM: 133090

Polymorphism

G/T, Transversion 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	757	UTR 3			NP_001257455.1
NM_001270527.1	757	Intron			NP_001257456.1
NM_004099.5	757	Missense Mutation	TAT,TCT	Y244S	NP_004090.4
NM_198194.2	757	Missense Mutation	TAT,TCT	Y79S	NP_937837.1

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