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PHKA2-AS1 (PHKA2 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class.
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS000075CB2F_9606 | lncRNA | 1296 | 2 |
HGNC: 44110, RefSeq: NR_029379, |
URS00003E520D_9606 | lncRNA | 597 | 2 |
Ensembl: ENST00000439295 (view in UCSC) , NONCODE: NONHSAT136427.2, |
URS0000EEB823_9606 | lncRNA | 1591 | 1 |
Ensembl: ENST00000654006 (view in UCSC) , |
URS000000F6A3_9606 | lncRNA | 656 | 1 |
Ensembl: ENST00000452900 (view in UCSC) , |
URS00008B7EEB_9606 | lncRNA | 1296 | 1 |
NONCODE: NONHSAT136426.2, |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
664908 | Uncertain Significance: Glycogen storage disease type IXa1 | 18,893,564(+) | C/T | MISSENSE_VARIANT | |
694637 | Uncertain Significance: Glycogen storage disease type IXa1 | 18,893,565(+) | C/T | MISSENSE_VARIANT | |
740335 | Likely Benign: not provided | 18,894,297(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
746664 | Likely Benign: not provided | 18,894,219(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
803725 | Pathogenic: Glycogen storage disease type IXa1 | 18,894,344(+) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2752317 | CNV | gain | 17911159 |
esv33517 | CNV | loss | 17666407 |
esv3576793 | CNV | gain | 25503493 |
nsv508754 | CNV | insertion | 20534489 |
No disorders were found for PHKA2-AS1 Gene.