Product Details

SNP ID

rs74709656

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:96935945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCTCGCCTGTCCACGGAGCAGCA[C/G]GGGGTTTGACTGTGCTTTTCCCTCT

Phenotype

MIM: 606832 MIM: 151300

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ERAP1 PubMed Links

Gene Details

Gene

ERAP1

Gene Name

endoplasmic reticulum aminopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040458.1	304	Intron			NP_001035548.1
NM_001198541.1	304	Intron			NP_001185470.1
NM_016442.3	304	Intron			NP_057526.3
XM_005272015.4	304	Intron			XP_005272072.1
XM_005272016.4	304	Intron			XP_005272073.1
XM_011543480.2	304	UTR 5			XP_011541782.1
XM_011543481.2	304	UTR 5			XP_011541783.1
XM_011543484.2	304	UTR 5			XP_011541786.1
XM_011543485.2	304	UTR 5			XP_011541787.1
XM_011543486.2	304	UTR 5			XP_011541788.1
XM_017009580.1	304	UTR 5			XP_016865069.1
XM_017009581.1	304	UTR 5			XP_016865070.1
XM_017009582.1	304	Intron			XP_016865071.1
XM_017009583.1	304	Intron			XP_016865072.1

Gene

LNPEP

Gene Name

leucyl and cystinyl aminopeptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005575.2	304	UTR 5			NP_005566.2
NM_175920.3	304	Intron			NP_787116.2

Gene

LOC101929747

Gene Name

uncharacterized LOC101929747

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005272150.4	304	Missense Mutation	CCT,CGT	P44R	XP_005272207.1

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