Product Details

SNP ID

rs200621359

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:147881457 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTTTCCTGCAGCTACTGCCTTC[C/G]TCATCAACAAAGTGCCCCTTCCTGT

Phenotype

MIM: 606531

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C5orf46 PubMed Links

Gene Details

Gene

C5orf46

Gene Name

chromosome 5 open reading frame 46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_206966.2	160	Intron			NP_996849.2
XM_005268446.3	160	Intron			XP_005268503.2
XM_017009459.1	160	Intron			XP_016864948.1

Gene

SCGB3A2

Gene Name

secretoglobin family 3A member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_054023.4	160	Missense Mutation	CTC,GTC	L23V	NP_473364.1

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