Product Details

SNP ID: rs187259198
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:4808046 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCAGTCTCTGAAAGTGCACCCCTTG[C/G]TGTTCGCACCTGGGGTCCCTGTCAC
Phenotype: MIM: 602384 MIM: 600307
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: LOC107984973 PubMed Links

Gene Details

Gene: LOC107984973
Gene Name: atherin-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017025490.1	247	Intron			XP_016880979.1

Gene: PLD2
Gene Name: phospholipase D2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243108.1	247	Missense Mutation	CTG,GTG	L58V	NP_001230037.1
NM_002663.4	247	Missense Mutation	CTG,GTG	L58V	NP_002654.3
XM_005256696.2	247	Intron			XP_005256753.1
XM_017024764.1	247	UTR 5			XP_016880253.1

Gene: PSMB6
Gene Name: proteasome subunit beta 6

There are no transcripts associated with this gene.

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