Product Details

SNP ID

rs1421654

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:73566142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTAATCAGCAACTCTCCAAGGCA[A/G]TGGACACATTTCCATCTTTGCCTTT

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	389	Intron			NP_075526.1
XM_005248560.2	389	Intron			XP_005248617.1
XM_017009678.1	389	Intron			XP_016865167.1

Gene

UTP15

Gene Name

UTP15, small subunit processome component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284430.1	389	Intron			NP_001271359.1
NM_001284431.1	389	Intron			NP_001271360.1
NM_032175.3	389	Intron			NP_115551.2
XM_011543680.2	389	UTR 5			XP_011541982.1

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