Product Details

SNP ID

rs202012817

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219232562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAGGACTTGCAGACACTGGATC[A/G]GGAGAGGGCTACATTTGAGAAGTTG

Phenotype

MIM: 612204

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKZF1 PubMed Links

Gene Details

Gene

ANKZF1

Gene Name

ankyrin repeat and zinc finger domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042410.1	611	Missense Mutation	CAG,CGG	Q146R	NP_001035869.1
NM_001282792.1	611	UTR 5			NP_001269721.1
NM_018089.2	611	Missense Mutation	CAG,CGG	Q146R	NP_060559.2
XM_005246663.2	611	Missense Mutation	CAG,CGG	Q81R	XP_005246720.1
XM_011511392.2	611	Missense Mutation	CAG,CGG	Q146R	XP_011509694.1
XM_017004420.1	611	Missense Mutation	CAG,CGG	Q81R	XP_016859909.1
XM_017004421.1	611	Missense Mutation	CAG,CGG	Q146R	XP_016859910.1

Gene

ATG9A

Gene Name

autophagy related 9A

There are no transcripts associated with this gene.

Gene

GLB1L

Gene Name

galactosidase beta 1 like

There are no transcripts associated with this gene.

View Full Product Details