Product Details

SNP ID

rs200100350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4307909 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCTGGCTGCCTGCACGCGGGCC[C/T]TGGAGAGCTCCGAGGAGCTTCTGGA

Phenotype

MIM: 609828 MIM: 614715

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FSD1 PubMed Links

Gene Details

Gene

FSD1

Gene Name

fibronectin type III and SPRY domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024333.2	423	Silent Mutation	CTG,TTG	L91L	NP_077309.1
XM_005259644.2	423	Silent Mutation	CTG,TTG	L91L	XP_005259701.1

Gene

TMIGD2

Gene Name

transmembrane and immunoglobulin domain containing 2

There are no transcripts associated with this gene.

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