Product Details

SNP ID

rs7104563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61259014 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGGGGTCGAAGGCCCTGGTGAGAG[C/T]CGAGGGGAGGCCCCAGGCTCCCCTG

Phenotype

MIM: 169730 MIM: 611115

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PGA5 PubMed Links

Gene Details

Gene

PGA5

Gene Name

pepsinogen 5, group I (pepsinogen A)

There are no transcripts associated with this gene.

Gene

VWCE

Gene Name

von Willebrand factor C and EGF domains

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152718.2	2401	Silent Mutation	CGA,CGG	R843R	NP_689931.2
XM_006718460.1	2401	Silent Mutation	CGA,CGG	R835R	XP_006718523.1
XM_006718462.1	2401	Silent Mutation	CGA,CGG	R783R	XP_006718525.1
XM_011544817.1	2401	Silent Mutation	CGA,CGG	R745R	XP_011543119.1
XM_017017340.1	2401	Silent Mutation	CGA,CGG	R822R	XP_016872829.1
XM_017017341.1	2401	Silent Mutation	CGA,CGG	R800R	XP_016872830.1
XM_017017342.1	2401	Silent Mutation	CGA,CGG	R713R	XP_016872831.1
XM_017017343.1	2401	Silent Mutation	CGA,CGG	R560R	XP_016872832.1
XM_017017344.1	2401	Intron			XP_016872833.1

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