Product Details

SNP ID

rs147194757

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74951609 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCAAACAGCTTCACGTCGGTGTC[A/G]TACCAGACAGGGGGGTCCACATTCC

Phenotype

MIM: 605752 MIM: 607828

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HID1 PubMed Links

Gene Details

Gene

HID1

Gene Name

HID1 domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030630.2	2472	Silent Mutation	TAC,TAT	Y776Y	NP_085133.1
XM_005257226.1	2472	Silent Mutation	TAC,TAT	Y775Y	XP_005257283.1

Gene

OTOP3

Gene Name

otopetrin 3

There are no transcripts associated with this gene.

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