Product Details

SNP ID

hCV86379931

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44349301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTACAGCTGCTGCCGTCCCCTTC[C/T]GGTGAGTGCCCCTCAGCCTAGGCAA

Phenotype

MIM: 138945

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM171A2 PubMed Links

Gene Details

Gene

FAM171A2

Gene Name

family with sequence similarity 171 member A2

There are no transcripts associated with this gene.

Gene

GRN

Gene Name

granulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002087.3	393	Missense Mutation	CCG,CTG	P46L	NP_002078.1

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