Product Details

SNP ID

rs138413810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219237170 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAAAGTACTAGTGCTATTGAGGA[C/T]AGGCTTATCCAAAAATTGGACTTGG

Phenotype

MIM: 612204 MIM: 604719

Polymorphism

C/T, 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	1655	Intron			NP_001035869.1
NM_001282792.1	1655	Intron			NP_001269721.1
NM_018089.2	1655	Intron			NP_060559.2
XM_005246663.2	1655	Intron			XP_005246720.1
XM_011511392.2	1655	Intron			XP_011509694.1
XM_017004420.1	1655	Intron			XP_016859909.1
XM_017004421.1	1655	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286423.1	1655	Missense Mutation	ATC,GTC	I623V	NP_001273352.1
NM_001286427.1	1655	Missense Mutation	ATC,GTC	I533V	NP_001273356.1
NM_024506.4	1655	Missense Mutation	ATC,GTC	I623V	NP_078782.3
XM_011511813.2	1655	Missense Mutation	ATC,GTC	I380V	XP_011510115.1
XM_017004895.1	1655	Missense Mutation	ATC,GTC	I533V	XP_016860384.1

Gene

STK16

Gene Name

serine/threonine kinase 16

There are no transcripts associated with this gene.

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