Product Details

SNP ID

rs143788121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:73557582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTAAATAGGCTATTACCTTGTTC[A/G]ATACGAGTAGCCAGATAGAGCATCT

Phenotype

MIM: 605787 MIM: 616194

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRA2 PubMed Links

Gene Details

Gene

ANKRA2

Gene Name

ankyrin repeat family A member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023039.4	1024	Silent Mutation	ATC,ATT	I169I	NP_075526.1
XM_005248560.2	1024	Silent Mutation	ATC,ATT	I101I	XP_005248617.1
XM_017009678.1	1024	Silent Mutation	ATC,ATT	I8I	XP_016865167.1

Gene

UTP15

Gene Name

UTP15, small subunit processome component

There are no transcripts associated with this gene.

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