Product Details

SNP ID

rs199611345

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:76790704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGGCATTGTAGTGACCTCTGGGC[A/G]GCCACGCTGGGGCAGGAAGTGGGTA

Phenotype

MIM: 609011

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANGEL1 PubMed Links

Gene Details

Gene

ANGEL1

Gene Name

angel homolog 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015305.3	1872	Missense Mutation	CGC,TGC	R587C	NP_056120.2
XM_017021115.1	1872	UTR 3			XP_016876604.1

Gene

LOC100506603

Gene Name

uncharacterized LOC100506603

There are no transcripts associated with this gene.

Gene

VASH1

Gene Name

vasohibin 1

There are no transcripts associated with this gene.

View Full Product Details