| geneid | 15 |
|---|---|
| ensemblid | ENSG00000129673.10 |
| hgncid | 19 |
| symbol | AANAT |
| name | aralkylamine N-acetyltransferase |
| refseq_nuc | NM_001088.3 |
| refseq_prot | NP_001079.1 |
| ensembl_nuc | ENST00000392492.8 |
| ensembl_prot | ENSP00000376282.2 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 76467603 |
| end | 76470117 |
| strand | + |
| ver | v1.2 |
| region | chr17:76467603-76470117 |
| region5000 | chr17:76462603-76475117 |
| regionname0 | AANAT_chr17_76467603_76470117 |
| regionname5000 | AANAT_chr17_76462603_76475117 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:76469731
|
G | A | 0.0070 | missense_variant | MODERATE | HG00609.hp1 NA18943.hp2 NA18992.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0011 | 3 | 426 | 0 | AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | c.385G>A | p.Ala129Thr | 585/971 | 385/624 | 129/207 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AANAT | 0/0 | a0003 | 207 | 3 | 0 | 0 | 3 | 0 | 0 | subcellular location copy fasta | chr17 | 76462603 | 76475117 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AANAT | 0/0 | c0003 | 624 | 3 | 0 | 0 | 3 | 0 | 0 | copy fasta | chr17 | 76462603 | 76475117 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AANAT | 1/0 | t0001 | 348 | 418 | 88 | 78 | 191 | 16 | 44 | copy fasta | chr17 | 76462603 | 76475117 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AANAT | 0/0 | a0003c0003 | 3 | 0 | 0 | 3 | 0 | 0 | 624 | copy fasta | chr17 | 76462603 | 76475117 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AANAT | 0/0 | a0003c0003t0001 | 3 | 0 | 0 | 3 | 0 | 0 | 971 | copy fasta | chr17 | 76462603 | 76475117 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 76467727 | + | 1 | -0.5881 | -0.5830 | -0.5802 | 0.0079 | acceptor | a0003c0003t0001 | NA18992.hp2 | HG00609.hp1 | AANAT | chr17 | 76462603 | 76475117 |
| 76468672 | + | 2 | 0.9926 | 0.9924 | 0.9922 | 0.0004 | donor | a0003c0003t0001 | NA18992.hp2 | HG00609.hp1 | AANAT | chr17 | 76462603 | 76475117 |
| 76468909 | + | 2 | -0.9865 | -0.9865 | -0.9864 | 0.0001 | acceptor | a0003c0003t0001 | NA18943.hp2 | HG00609.hp1 | AANAT | chr17 | 76462603 | 76475117 |
| 76469173 | + | 3 | 0.8987 | 0.8956 | 0.8952 | 0.0034 | donor | a0003c0003t0001 | NA18992.hp2 | HG00609.hp1 | AANAT | chr17 | 76462603 | 76475117 |
| 76469327 | + | 3 | -0.9954 | -0.9953 | -0.9953 | 0.0001 | acceptor | a0003c0003t0001 | NA18992.hp2 | NA18943.hp2 | AANAT | chr17 | 76462603 | 76475117 |
| 76469665 | + | 4 | 0.9906 | 0.9906 | 0.9903 | 0.0003 | donor | a0003c0003t0001 | HG00609.hp1 | NA18992.hp2 | AANAT | chr17 | 76462603 | 76475117 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 76471014:splice 76471014:variant goto | c.*1044T>C | 325402 | Benign | RHBDF2:79651 | SO:0001619 non-coding_transcript_variant,SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0007856 MedGen:C1835664 OMIM:148500 Orphanet:2198|MedGen:C3661900 |
+ | 5 | 8 | 9 | 13 | a0001a0002a0003a0004a0008 | a0001c0001a0001c0004a0001c0008a0002c0005a0002c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0008t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0002g0005others(8): Show | HG00609.hp1 HG00738.hp2 HG01099.hp2 HG02135.hp1 HG02135.hp2 others(59): Show |
MODIFIER | chr17 | T | C | TogoVar |
| 76471582:splice 76471582:variant goto | c.*1612C>G | 325419 | Benign | RHBDF2:79651 | SO:0001619 non-coding_transcript_variant,SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0007856 MedGen:C1835664 OMIM:148500 Orphanet:2198|MedGen:C3661900 |
+ | 4 | 6 | 6 | 8 | a0001a0003a0004a0008 | a0001c0001a0001c0004a0001c0008a0003c0003a0004c0013others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001a0003c0003t0001a0004c0013t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0004t0001g0002a0001c0008t0001g0002a0003c0003t0001g0002others(3): Show | HG00609.hp1 HG00738.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 others(45): Show |
MODIFIER | chr17 | C | G | TogoVar |
| 76471082:splice 76471082:variant goto | c.*1112C>T | 325406 | Benign | RHBDF2:79651 | SO:0001619 non-coding_transcript_variant,SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0007856 MedGen:C1835664 OMIM:148500 Orphanet:2198|MedGen:C3661900 |
+ | 3 | 5 | 5 | 7 | a0001a0003a0008 | a0001c0001a0001c0004a0001c0008a0003c0003a0008c0007 | a0001c0001t0001a0001c0004t0001a0001c0008t0001a0003c0003t0001a0008c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0004t0001g0002a0001c0008t0001g0002a0003c0003t0001g0002others(2): Show | HG00609.hp1 HG00738.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 others(44): Show |
MODIFIER | chr17 | C | T | TogoVar |
| 76469731:splice 76469731:variant goto | c.385G>Ap.Ala129Thr | 8630 | Uncertain_significance | AANAT:15 | SO:0001583 missense_variant,SO:0001619 non-coding_transcript_variant |
MONDO:MONDO:0800001 MedGen:C3279991 OMIM:614163 |
+ | 1 | 1 | 1 | 2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0011 | HG00609.hp1 NA18943.hp2 NA18992.hp2 |
MODERATE | chr17 | G | A | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|