Product Details

SNP ID

rs140599638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:147881560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAAAGCTTCTTCTGAAAACTCTGG[A/G]CATTTCTGTTGAGCACCTTGTGGAG

Phenotype

MIM: 606531

Polymorphism

A/G, Transition 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	263	Intron			NP_996849.2
XM_005268446.3	263	Intron			XP_005268503.2
XM_017009459.1	263	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	263	Missense Mutation	GAC,GGC	D57G	NP_473364.1

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