Product Details

SNP ID

rs115093259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:76790703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATGGCATTGTAGTGACCTCTGGG[C/T]GGCCACGCTGGGGCAGGAAGTGGGT

Phenotype

MIM: 609011

Polymorphism

C/T, 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	1873	Missense Mutation	CAC,CGC	H587R	NP_056120.2
XM_017021115.1	1873	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.

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