Product Details

SNP ID

rs1047902

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:158907262 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTGCATAATTCCAAAGTATTTT[A/T]TTTTTTATCAATCAGTGTTAAATAG

Phenotype

MIM: 612768

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

C4orf45 PubMed Links

Gene Details

Gene

C4orf45

Gene Name

chromosome 4 open reading frame 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152543.2	6281	Intron			NP_689756.2
XM_011531671.2	6281	Intron			XP_011529973.1
XM_011531672.2	6281	Intron			XP_011529974.1
XM_017007808.1	6281	Intron			XP_016863297.1
XM_017007809.1	6281	Intron			XP_016863298.1
XM_017007810.1	6281	Intron			XP_016863299.1

Gene

FNIP2

Gene Name

folliculin interacting protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323916.1	6281	UTR 3			NP_001310845.1
NM_020840.2	6281	UTR 3			NP_065891.1
XM_005263156.1	6281	UTR 3			XP_005263213.1
XM_005263158.1	6281	UTR 3			XP_005263215.1
XM_005263160.3	6281	Intron			XP_005263217.1
XM_011532154.2	6281	UTR 3			XP_011530456.1
XM_017008487.1	6281	UTR 3			XP_016863976.1

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