Product Details

SNP ID

rs147907598

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4808345 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCTGGACAACCAAGAAGAAATA[C/G]CGTCATTTTCAGGAGCTGCATCGGG

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	387	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	387	Nonsense Mutation	TAC,TAG	Y104*	NP_001230037.1
NM_002663.4	387	Nonsense Mutation	TAC,TAG	Y104*	NP_002654.3
XM_005256696.2	387	Intron			XP_005256753.1
XM_017024764.1	387	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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