Product Details

SNP ID

rs145616782

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:11104447 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTTGAGTTTTAAGGCATGTAGA[C/G]ATATGGAAATGAAATAAGGGGGTGA

Phenotype

MIM: 610524

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ERVFRD-1 PubMed Links

Gene Details

Gene

ERVFRD-1

Gene Name

endogenous retrovirus group FRD member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207582.2	1346	Missense Mutation	ATC,ATG	I288M	NP_997465.1

Gene

SMIM13

Gene Name

small integral membrane protein 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135575.1	1346	Intron			NP_001129047.1

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