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These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in
this section to the one reported in Genomic regions,
transcripts, and products above.
mRNA and Protein(s)
-
NM_001324073.3 → NP_001311002.1 protein CD300H isoform 1 precursor
Status: VALIDATED
- Description
- Transcript Variant: This variant (1) encodes the longer isoform (1). Based on data in PMID: 26221034, a G>A mutation (rs905709) at the splice donor site of the 5' terminal exon may be associated with lack of expression of this gene in homozygous (AA) individuals. While the reference genome contains the 'A' allele at the SNP, this RefSeq is created to represent the functional allele (G).
- Source sequence(s)
-
AC079325, ADDF02074771
- Consensus CDS
-
CCDS86636.1
- UniProtKB/Swiss-Prot
- A0A0K2S4Q6, A0A0K2S5L2, A0A286YF48
- Related
- ENSP00000492977.1, ENST00000641710.1
- Conserved Domains (1) summary
-
- cd05716
Location:30 → 113
- Ig_pIgR_like; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR) and similar domains
-
NM_001324076.3 → NP_001311005.1 protein CD300H isoform 2 precursor
Status: VALIDATED
- Description
- Transcript Variant: This variant (2) lacks an alternate exon in the coding region, resulting in a frameshift and an early stop codon. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Based on data in PMID: 26221034, a G>A mutation (rs905709) at the splice donor site of the 5' terminal exon may be associated with lack of expression of this gene in homozygous (AA) individuals. While the reference genome contains the 'A' allele at the SNP, this RefSeq is created to represent the functional allele (G).
- Source sequence(s)
-
AC079325, ADDF02074771
- Consensus CDS
-
CCDS86635.1
- UniProtKB/TrEMBL
- A0A0K2S4Q6, A0A0K2S5L2, A0A286YF48
- Related
- ENSP00000492997.1, ENST00000641031.1
- Conserved Domains (2) summary
-
- cd05716
Location:30 → 113
- Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
- smart00410
Location:28 → 111
- IG_like; Immunoglobulin like
-
NM_001405511.1 → NP_001392440.1 protein CD300H isoform 3
Status: VALIDATED
- Source sequence(s)
-
AC079325