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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1478531446

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:27210923 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACBD5 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 T=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 A=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999996 A=0.000004
Allele Frequency Aggregator Total Global 14050 T=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 A=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.27210923T>A
GRCh37.p13 chr 10 NC_000010.10:g.27499852T>A
ACBD5 RefSeqGene NG_032960.3:g.42752A>T
Gene: ACBD5, acyl-CoA binding domain containing 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ACBD5 transcript variant 4 NM_001271512.3:c.1089A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 3 NP_001258441.1:p.Lys363Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 11 NM_001352571.1:c.1122A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 19 NP_001339500.1:p.Lys374Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 23 NM_001352583.1:c.768A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001339512.1:p.Lys256Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 26 NM_001352586.1:c.918A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 16 NP_001339515.1:p.Lys306Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 10 NM_001352570.1:c.1095A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 8 NP_001339499.1:p.Lys365Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 27 NM_001352587.1:c.885A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 17 NP_001339516.1:p.Lys295Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 21 NM_001352581.1:c.924A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 13 NP_001339510.1:p.Lys308Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 25 NM_001352585.1:c.801A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 15 NP_001339514.1:p.Lys267Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 24 NM_001352584.1:c.768A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001339513.1:p.Lys256Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 13 NM_001352573.1:c.1074A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 10 NP_001339502.1:p.Lys358Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 8 NM_001352568.1:c.1149A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 6 NP_001339497.1:p.Lys383Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 9 NM_001352569.1:c.1128A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 7 NP_001339498.1:p.Lys376Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 28 NM_001352588.1:c.891A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 18 NP_001339517.1:p.Lys297Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 12 NM_001352572.1:c.1116A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 9 NP_001339501.1:p.Lys372Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 1 NM_145698.5:c.1095A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 1 NP_663736.2:p.Lys365Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 7 NM_001301252.2:c.768A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001288181.1:p.Lys256Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 2 NM_001042473.4:c.990A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001035938.1:p.Lys330Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 17 NM_001352577.2:c.990A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001339506.1:p.Lys330Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 5 NM_001301253.2:c.768A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001288182.1:p.Lys256Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 22 NM_001352582.2:c.786A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 14 NP_001339511.1:p.Lys262Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 3 NM_001301251.2:c.768A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001288180.1:p.Lys256Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 6 NM_001301254.2:c.564A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 5 NP_001288183.1:p.Lys188Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 15 NM_001352575.2:c.1023A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 11 NP_001339504.1:p.Lys341Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 20 NM_001352580.2:c.936A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 12 NP_001339509.1:p.Lys312Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 14 NM_001352574.2:c.1023A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 11 NP_001339503.1:p.Lys341Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 16 NM_001352576.2:c.1023A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 11 NP_001339505.1:p.Lys341Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 18 NM_001352578.2:c.990A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001339507.1:p.Lys330Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant 19 NM_001352579.2:c.990A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001339508.1:p.Lys330Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X15 XM_017016884.3:c.1023A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X9 XP_016872373.2:p.Lys341Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X16 XM_017016885.3:c.990A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X10 XP_016872374.2:p.Lys330Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X1 XM_017016887.3:c.1149A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X1 XP_016872376.1:p.Lys383Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X17 XM_047425993.1:c.1131A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X15 XP_047281949.1:p.Lys377Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X2 XM_017016888.3:c.1128A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X2 XP_016872377.1:p.Lys376Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X3 XM_017016889.3:c.1116A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X3 XP_016872378.1:p.Lys372Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X4 XM_017016890.3:c.819A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X4 XP_016872379.2:p.Lys273Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X5 XM_047425994.1:c.819A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X5 XP_047281950.1:p.Lys273Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X6 XM_017016893.3:c.786A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X6 XP_016872382.2:p.Lys262Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X7 XM_047425995.1:c.1098A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X7 XP_047281951.1:p.Lys366Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X8 XM_017016894.3:c.786A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X8 XP_016872383.2:p.Lys262Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X9 XM_017016895.3:c.1023A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X9 XP_016872384.1:p.Lys341Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X10 XM_017016896.2:c.990A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X10 XP_016872385.1:p.Lys330Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X11 XM_024448248.2:c.924A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X11 XP_024304016.1:p.Lys308Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X12 XM_047425996.1:c.945A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X12 XP_047281952.1:p.Lys315Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X13 XM_017016898.3:c.891A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X13 XP_016872387.1:p.Lys297Asn K (Lys) > N (Asn) Missense Variant
ACBD5 transcript variant X14 XM_024448249.2:c.912A>T K [AAA] > N [AAT] Coding Sequence Variant
acyl-CoA-binding domain-containing protein 5 isoform X14 XP_024304017.1:p.Lys304Asn K (Lys) > N (Asn) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A
GRCh38.p14 chr 10 NC_000010.11:g.27210923= NC_000010.11:g.27210923T>A
GRCh37.p13 chr 10 NC_000010.10:g.27499852= NC_000010.10:g.27499852T>A
ACBD5 RefSeqGene NG_032960.3:g.42752= NG_032960.3:g.42752A>T
ACBD5 transcript variant 1 NM_145698.5:c.1095= NM_145698.5:c.1095A>T
ACBD5 transcript variant 1 NM_145698.4:c.1095= NM_145698.4:c.1095A>T
ACBD5 transcript variant 1 NM_145698.3:c.1095= NM_145698.3:c.1095A>T
ACBD5 transcript variant 2 NM_001042473.4:c.990= NM_001042473.4:c.990A>T
ACBD5 transcript variant 2 NM_001042473.3:c.990= NM_001042473.3:c.990A>T
ACBD5 transcript variant 2 NM_001042473.2:c.990= NM_001042473.2:c.990A>T
ACBD5 transcript variant 4 NM_001271512.3:c.1089= NM_001271512.3:c.1089A>T
ACBD5 transcript variant 4 NM_001271512.2:c.1089= NM_001271512.2:c.1089A>T
ACBD5 transcript variant 4 NM_001271512.1:c.1089= NM_001271512.1:c.1089A>T
ACBD5 transcript variant 19 NM_001352579.2:c.990= NM_001352579.2:c.990A>T
ACBD5 transcript variant 19 NM_001352579.1:c.990= NM_001352579.1:c.990A>T
ACBD5 transcript variant 14 NM_001352574.2:c.1023= NM_001352574.2:c.1023A>T
ACBD5 transcript variant 14 NM_001352574.1:c.1023= NM_001352574.1:c.1023A>T
ACBD5 transcript variant 15 NM_001352575.2:c.1023= NM_001352575.2:c.1023A>T
ACBD5 transcript variant 15 NM_001352575.1:c.1023= NM_001352575.1:c.1023A>T
ACBD5 transcript variant 16 NM_001352576.2:c.1023= NM_001352576.2:c.1023A>T
ACBD5 transcript variant 16 NM_001352576.1:c.1023= NM_001352576.1:c.1023A>T
ACBD5 transcript variant 17 NM_001352577.2:c.990= NM_001352577.2:c.990A>T
ACBD5 transcript variant 17 NM_001352577.1:c.990= NM_001352577.1:c.990A>T
ACBD5 transcript variant 18 NM_001352578.2:c.990= NM_001352578.2:c.990A>T
ACBD5 transcript variant 18 NM_001352578.1:c.990= NM_001352578.1:c.990A>T
ACBD5 transcript variant 20 NM_001352580.2:c.936= NM_001352580.2:c.936A>T
ACBD5 transcript variant 20 NM_001352580.1:c.936= NM_001352580.1:c.936A>T
ACBD5 transcript variant 3 NM_001301251.2:c.768= NM_001301251.2:c.768A>T
ACBD5 transcript variant 3 NM_001301251.1:c.768= NM_001301251.1:c.768A>T
ACBD5 transcript variant 5 NM_001301253.2:c.768= NM_001301253.2:c.768A>T
ACBD5 transcript variant 5 NM_001301253.1:c.768= NM_001301253.1:c.768A>T
ACBD5 transcript variant 7 NM_001301252.2:c.768= NM_001301252.2:c.768A>T
ACBD5 transcript variant 7 NM_001301252.1:c.768= NM_001301252.1:c.768A>T
ACBD5 transcript variant 22 NM_001352582.2:c.786= NM_001352582.2:c.786A>T
ACBD5 transcript variant 22 NM_001352582.1:c.786= NM_001352582.1:c.786A>T
ACBD5 transcript variant 6 NM_001301254.2:c.564= NM_001301254.2:c.564A>T
ACBD5 transcript variant 6 NM_001301254.1:c.564= NM_001301254.1:c.564A>T
ACBD5 transcript variant 11 NM_001352571.1:c.1122= NM_001352571.1:c.1122A>T
ACBD5 transcript variant 9 NM_001352569.1:c.1128= NM_001352569.1:c.1128A>T
ACBD5 transcript variant 8 NM_001352568.1:c.1149= NM_001352568.1:c.1149A>T
ACBD5 transcript variant 26 NM_001352586.1:c.918= NM_001352586.1:c.918A>T
ACBD5 transcript variant 12 NM_001352572.1:c.1116= NM_001352572.1:c.1116A>T
ACBD5 transcript variant 27 NM_001352587.1:c.885= NM_001352587.1:c.885A>T
ACBD5 transcript variant 13 NM_001352573.1:c.1074= NM_001352573.1:c.1074A>T
ACBD5 transcript variant 25 NM_001352585.1:c.801= NM_001352585.1:c.801A>T
ACBD5 transcript variant 24 NM_001352584.1:c.768= NM_001352584.1:c.768A>T
ACBD5 transcript variant 23 NM_001352583.1:c.768= NM_001352583.1:c.768A>T
ACBD5 transcript variant 21 NM_001352581.1:c.924= NM_001352581.1:c.924A>T
ACBD5 transcript variant 28 NM_001352588.1:c.891= NM_001352588.1:c.891A>T
ACBD5 transcript variant 10 NM_001352570.1:c.1095= NM_001352570.1:c.1095A>T
ACBD5 transcript variant X8 XM_017016894.3:c.786= XM_017016894.3:c.786A>T
ACBD5 transcript variant X10 XM_017016894.2:c.1083= XM_017016894.2:c.1083A>T
ACBD5 transcript variant X14 XM_017016894.1:c.1083= XM_017016894.1:c.1083A>T
ACBD5 transcript variant X2 XM_017016888.3:c.1128= XM_017016888.3:c.1128A>T
ACBD5 transcript variant X6 XM_017016888.2:c.1128= XM_017016888.2:c.1128A>T
ACBD5 transcript variant X6 XM_017016888.1:c.1128= XM_017016888.1:c.1128A>T
ACBD5 transcript variant X1 XM_017016887.3:c.1149= XM_017016887.3:c.1149A>T
ACBD5 transcript variant X5 XM_017016887.2:c.1149= XM_017016887.2:c.1149A>T
ACBD5 transcript variant X5 XM_017016887.1:c.1149= XM_017016887.1:c.1149A>T
ACBD5 transcript variant X3 XM_017016889.3:c.1116= XM_017016889.3:c.1116A>T
ACBD5 transcript variant X7 XM_017016889.2:c.1116= XM_017016889.2:c.1116A>T
ACBD5 transcript variant X8 XM_017016889.1:c.1116= XM_017016889.1:c.1116A>T
ACBD5 transcript variant X9 XM_017016895.3:c.1023= XM_017016895.3:c.1023A>T
ACBD5 transcript variant X11 XM_017016895.2:c.1023= XM_017016895.2:c.1023A>T
ACBD5 transcript variant X15 XM_017016895.1:c.1023= XM_017016895.1:c.1023A>T
ACBD5 transcript variant X15 XM_017016884.3:c.1023= XM_017016884.3:c.1023A>T
ACBD5 transcript variant X1 XM_017016884.2:c.1320= XM_017016884.2:c.1320A>T
ACBD5 transcript variant X1 XM_017016884.1:c.1320= XM_017016884.1:c.1320A>T
ACBD5 transcript variant X16 XM_017016885.3:c.990= XM_017016885.3:c.990A>T
ACBD5 transcript variant X3 XM_017016885.2:c.1287= XM_017016885.2:c.1287A>T
ACBD5 transcript variant X3 XM_017016885.1:c.1287= XM_017016885.1:c.1287A>T
ACBD5 transcript variant X13 XM_017016898.3:c.891= XM_017016898.3:c.891A>T
ACBD5 transcript variant X14 XM_017016898.2:c.891= XM_017016898.2:c.891A>T
ACBD5 transcript variant X19 XM_017016898.1:c.891= XM_017016898.1:c.891A>T
ACBD5 transcript variant X4 XM_017016890.3:c.819= XM_017016890.3:c.819A>T
ACBD5 transcript variant X8 XM_017016890.2:c.1116= XM_017016890.2:c.1116A>T
ACBD5 transcript variant X9 XM_017016890.1:c.1116= XM_017016890.1:c.1116A>T
ACBD5 transcript variant X6 XM_017016893.3:c.786= XM_017016893.3:c.786A>T
ACBD5 transcript variant X9 XM_017016893.2:c.1083= XM_017016893.2:c.1083A>T
ACBD5 transcript variant X13 XM_017016893.1:c.1083= XM_017016893.1:c.1083A>T
ACBD5 transcript variant 7 NR_073197.2:n.1354= NR_073197.2:n.1354A>T
ACBD5 transcript variant 6 NR_073196.2:n.1150= NR_073196.2:n.1150A>T
ACBD5 transcript variant X14 XM_024448249.2:c.912= XM_024448249.2:c.912A>T
ACBD5 transcript variant X15 XM_024448249.1:c.912= XM_024448249.1:c.912A>T
ACBD5 transcript variant X10 XM_017016896.2:c.990= XM_017016896.2:c.990A>T
ACBD5 transcript variant X12 XM_017016896.1:c.990= XM_017016896.1:c.990A>T
ACBD5 transcript variant X11 XM_024448248.2:c.924= XM_024448248.2:c.924A>T
ACBD5 transcript variant X13 XM_024448248.1:c.924= XM_024448248.1:c.924A>T
ACBD5 transcript variant X7 XM_047425995.1:c.1098= XM_047425995.1:c.1098A>T
ACBD5 transcript variant 7 NR_073197.1:n.1354= NR_073197.1:n.1354A>T
ACBD5 transcript variant 6 NR_073196.1:n.1150= NR_073196.1:n.1150A>T
ACBD5 transcript variant X12 XM_047425996.1:c.945= XM_047425996.1:c.945A>T
ACBD5 transcript variant 3 NR_024150.1:n.1040= NR_024150.1:n.1040A>T
ACBD5 transcript variant 5 NR_073195.1:n.1030= NR_073195.1:n.1030A>T
ACBD5 transcript variant X5 XM_047425994.1:c.819= XM_047425994.1:c.819A>T
ACBD5 transcript variant X17 XM_047425993.1:c.1131= XM_047425993.1:c.1131A>T
acyl-CoA-binding domain-containing protein 5 isoform 1 NP_663736.2:p.Lys365= NP_663736.2:p.Lys365Asn
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001035938.1:p.Lys330= NP_001035938.1:p.Lys330Asn
acyl-CoA-binding domain-containing protein 5 isoform 3 NP_001258441.1:p.Lys363= NP_001258441.1:p.Lys363Asn
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001339508.1:p.Lys330= NP_001339508.1:p.Lys330Asn
acyl-CoA-binding domain-containing protein 5 isoform 11 NP_001339503.1:p.Lys341= NP_001339503.1:p.Lys341Asn
acyl-CoA-binding domain-containing protein 5 isoform 11 NP_001339504.1:p.Lys341= NP_001339504.1:p.Lys341Asn
acyl-CoA-binding domain-containing protein 5 isoform 11 NP_001339505.1:p.Lys341= NP_001339505.1:p.Lys341Asn
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001339506.1:p.Lys330= NP_001339506.1:p.Lys330Asn
acyl-CoA-binding domain-containing protein 5 isoform 2 NP_001339507.1:p.Lys330= NP_001339507.1:p.Lys330Asn
acyl-CoA-binding domain-containing protein 5 isoform 12 NP_001339509.1:p.Lys312= NP_001339509.1:p.Lys312Asn
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001288180.1:p.Lys256= NP_001288180.1:p.Lys256Asn
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001288182.1:p.Lys256= NP_001288182.1:p.Lys256Asn
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001288181.1:p.Lys256= NP_001288181.1:p.Lys256Asn
acyl-CoA-binding domain-containing protein 5 isoform 14 NP_001339511.1:p.Lys262= NP_001339511.1:p.Lys262Asn
acyl-CoA-binding domain-containing protein 5 isoform 5 NP_001288183.1:p.Lys188= NP_001288183.1:p.Lys188Asn
acyl-CoA-binding domain-containing protein 5 isoform 19 NP_001339500.1:p.Lys374= NP_001339500.1:p.Lys374Asn
acyl-CoA-binding domain-containing protein 5 isoform 7 NP_001339498.1:p.Lys376= NP_001339498.1:p.Lys376Asn
acyl-CoA-binding domain-containing protein 5 isoform 6 NP_001339497.1:p.Lys383= NP_001339497.1:p.Lys383Asn
acyl-CoA-binding domain-containing protein 5 isoform 16 NP_001339515.1:p.Lys306= NP_001339515.1:p.Lys306Asn
acyl-CoA-binding domain-containing protein 5 isoform 9 NP_001339501.1:p.Lys372= NP_001339501.1:p.Lys372Asn
acyl-CoA-binding domain-containing protein 5 isoform 17 NP_001339516.1:p.Lys295= NP_001339516.1:p.Lys295Asn
acyl-CoA-binding domain-containing protein 5 isoform 10 NP_001339502.1:p.Lys358= NP_001339502.1:p.Lys358Asn
acyl-CoA-binding domain-containing protein 5 isoform 15 NP_001339514.1:p.Lys267= NP_001339514.1:p.Lys267Asn
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001339513.1:p.Lys256= NP_001339513.1:p.Lys256Asn
acyl-CoA-binding domain-containing protein 5 isoform 4 NP_001339512.1:p.Lys256= NP_001339512.1:p.Lys256Asn
acyl-CoA-binding domain-containing protein 5 isoform 13 NP_001339510.1:p.Lys308= NP_001339510.1:p.Lys308Asn
acyl-CoA-binding domain-containing protein 5 isoform 18 NP_001339517.1:p.Lys297= NP_001339517.1:p.Lys297Asn
acyl-CoA-binding domain-containing protein 5 isoform 8 NP_001339499.1:p.Lys365= NP_001339499.1:p.Lys365Asn
acyl-CoA-binding domain-containing protein 5 isoform X8 XP_016872383.2:p.Lys262= XP_016872383.2:p.Lys262Asn
acyl-CoA-binding domain-containing protein 5 isoform X2 XP_016872377.1:p.Lys376= XP_016872377.1:p.Lys376Asn
acyl-CoA-binding domain-containing protein 5 isoform X1 XP_016872376.1:p.Lys383= XP_016872376.1:p.Lys383Asn
acyl-CoA-binding domain-containing protein 5 isoform X3 XP_016872378.1:p.Lys372= XP_016872378.1:p.Lys372Asn
acyl-CoA-binding domain-containing protein 5 isoform X9 XP_016872384.1:p.Lys341= XP_016872384.1:p.Lys341Asn
acyl-CoA-binding domain-containing protein 5 isoform X9 XP_016872373.2:p.Lys341= XP_016872373.2:p.Lys341Asn
acyl-CoA-binding domain-containing protein 5 isoform X10 XP_016872374.2:p.Lys330= XP_016872374.2:p.Lys330Asn
acyl-CoA-binding domain-containing protein 5 isoform X13 XP_016872387.1:p.Lys297= XP_016872387.1:p.Lys297Asn
acyl-CoA-binding domain-containing protein 5 isoform X4 XP_016872379.2:p.Lys273= XP_016872379.2:p.Lys273Asn
acyl-CoA-binding domain-containing protein 5 isoform X6 XP_016872382.2:p.Lys262= XP_016872382.2:p.Lys262Asn
acyl-CoA-binding domain-containing protein 5 isoform X14 XP_024304017.1:p.Lys304= XP_024304017.1:p.Lys304Asn
acyl-CoA-binding domain-containing protein 5 isoform X10 XP_016872385.1:p.Lys330= XP_016872385.1:p.Lys330Asn
acyl-CoA-binding domain-containing protein 5 isoform X11 XP_024304016.1:p.Lys308= XP_024304016.1:p.Lys308Asn
acyl-CoA-binding domain-containing protein 5 isoform X7 XP_047281951.1:p.Lys366= XP_047281951.1:p.Lys366Asn
acyl-CoA-binding domain-containing protein 5 isoform X12 XP_047281952.1:p.Lys315= XP_047281952.1:p.Lys315Asn
acyl-CoA-binding domain-containing protein 5 isoform X5 XP_047281950.1:p.Lys273= XP_047281950.1:p.Lys273Asn
acyl-CoA-binding domain-containing protein 5 isoform X15 XP_047281949.1:p.Lys377= XP_047281949.1:p.Lys377Asn
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4846713806 Apr 27, 2021 (155)
2 TopMed NC_000010.11 - 27210923 Apr 27, 2021 (155)
3 ALFA NC_000010.11 - 27210923 Apr 27, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
62259461, 9310522908, ss4846713806 NC_000010.11:27210922:T:A NC_000010.11:27210922:T:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1478531446

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d