Product Details

SNP ID

rs11377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:116154487 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTATTTCAGCGGGCGAGGCGAGCA[C/G]CTGCGCCTCCGGGCCGACCTCGAGC

Phenotype

MIM: 176385

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PAPPA PubMed Links

Gene Details

Gene

PAPPA

Gene Name

pappalysin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002581.4	736	Missense Mutation	CAC,CAG	H105Q	NP_002572.2
XM_006717129.2	736	Intron			XP_006717192.1
XM_017014784.1	736	Missense Mutation	CAC,CAG	H105Q	XP_016870273.1

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