Product Details

SNP ID

rs143122611

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:70979186 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCCTGCCTCGCTCACCCCGCCCC[A/G]CGCTGACCCCAGCCCCAGCAAGGAG

Phenotype

MIM: 617009

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRD53 PubMed Links

Gene Details

Gene

ANKRD53

Gene Name

ankyrin repeat domain 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001115116.1	297	Missense Mutation	CAC,CGC	H87R	NP_001108588.1
NM_024933.3	297	Missense Mutation	CAC,CGC	H87R	NP_079209.3
XM_005264569.4	297	Intron			XP_005264626.1
XM_011533114.2	297	Missense Mutation	CAC,CGC	H87R	XP_011531416.1

Gene

TEX261

Gene Name

testis expressed 261

There are no transcripts associated with this gene.

View Full Product Details