Product Details

SNP ID

rs181246888

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:24271510 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGCCCGAGGCGGACGGAACGTC[C/T]TTTTTTCTTGAGACGTGGTTAATTG

Phenotype

MIM: 614140

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

POM121L9P PubMed Links

Gene Details

Gene

POM121L9P

Gene Name

POM121 transmembrane nucleoporin like 9, pseudogene

There are no transcripts associated with this gene.

Gene

SPECC1L

Gene Name

sperm antigen with calponin homology and coiled-coil domains 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145468.3		Intron			NP_001138940.3
NM_001254732.2		Intron			NP_001241661.2
NM_001254733.1		Intron			NP_001241662.1
NM_015330.4		Intron			NP_056145.4

Gene

SPECC1L-ADORA2A

Gene Name

SPECC1L-ADORA2A readthrough (NMD candidate)

There are no transcripts associated with this gene.

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