Product Details

SNP ID

rs79220020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74533079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCGAGACAGAGGGTTAAATGAA[C/T]CAGTGGGGGCAGGTCCCTCCAACCA

Phenotype

MIM: 602434 MIM: 606441 MIM: 607163

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AUP1 PubMed Links

Gene Details

Gene

AUP1

Gene Name

ancient ubiquitous protein 1

There are no transcripts associated with this gene.

Gene

DQX1

Gene Name

DEAQ-box RNA dependent ATPase 1

There are no transcripts associated with this gene.

Gene

HTRA2

Gene Name

HtrA serine peptidase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321727.1	2455	UTR 3			NP_001308656.1
NM_001321728.1	2455	UTR 3			NP_001308657.1
NM_013247.4	2455	UTR 3			NP_037379.1
NM_145074.2	2455	UTR 3			NP_659540.1

Gene

LOXL3

Gene Name

lysyl oxidase like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289164.1	2455	UTR 3			NP_001276093.1
NM_001289165.1	2455	UTR 3			NP_001276094.1
NM_032603.3	2455	UTR 3			NP_115992.1
XM_011533134.2	2455	Intron			XP_011531436.1
XM_017005112.1	2455	Intron			XP_016860601.1

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