Product Details

SNP ID

rs112917867

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44359649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTGGCCGGCCGCTCAGGGAGCAG[A/G]TAGAGGCTGACAGACGCATACACTG

Phenotype

MIM: 138945

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM171A2 PubMed Links

Gene Details

Gene

FAM171A2

Gene Name

family with sequence similarity 171 member A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198475.2	522	Silent Mutation	TAC,TAT	Y123Y	NP_940877.2
XM_017024490.1	522	Intron			XP_016879979.1

Gene

GRN

Gene Name

granulin

There are no transcripts associated with this gene.

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