Product Details

SNP ID

rs41273438

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:121341245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGCCCCTATGATTCCTTGCAGC[A/G]TATCTATGGGCAGAGGGAAGACAAT

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	850	UTR 3			NP_001257455.1
NM_001270527.1	850	Intron			NP_001257456.1
NM_004099.5	850	Missense Mutation	ACG,ATG	T275M	NP_004090.4
NM_198194.2	850	Missense Mutation	ACG,ATG	T110M	NP_937837.1

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