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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.

rs1485246560

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:24816944 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/250494, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TNRC6A : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 250494 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135104 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 48700 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34298 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16250 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10044 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6098 G=1.0000 A=0.0000
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 16 NC_000016.10:g.24816944G>A
GRCh37.p13 chr 16 NC_000016.9:g.24828265G>A
GRCh38.p14 chr 16 fix patch HG2471_PATCH NW_021160019.1:g.67644G>A
Gene: TNRC6A, trinucleotide repeat containing adaptor 6A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TNRC6A transcript variant 1 NM_014494.4:c.4960G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform 1 NP_055309.2:p.Asp1654Asn D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant 2 NM_001330520.3:c.4813G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform 2 NP_001317449.1:p.Asp1605A…

NP_001317449.1:p.Asp1605Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant 3 NM_001351850.2:c.4840G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform 3 NP_001338779.1:p.Asp1614A…

NP_001338779.1:p.Asp1614Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X1 XM_024450231.2:c.4987G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X1 XP_024305999.1:p.Asp1663A…

XP_024305999.1:p.Asp1663Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X2 XM_017023144.3:c.4954G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X2 XP_016878633.1:p.Asp1652A…

XP_016878633.1:p.Asp1652Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X3 XM_047433910.1:c.4927G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X3 XP_047289866.1:p.Asp1643A…

XP_047289866.1:p.Asp1643Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X4 XM_017023145.3:c.4918G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X4 XP_016878634.1:p.Asp1640A…

XP_016878634.1:p.Asp1640Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X5 XM_017023146.2:c.4912G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X5 XP_016878635.1:p.Asp1638A…

XP_016878635.1:p.Asp1638Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X6 XM_047433911.1:c.4879G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X6 XP_047289867.1:p.Asp1627A…

XP_047289867.1:p.Asp1627Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X7 XM_017023148.3:c.4810G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X7 XP_016878637.1:p.Asp1604A…

XP_016878637.1:p.Asp1604Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X8 XM_024450232.2:c.4807G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X8 XP_024306000.1:p.Asp1603A…

XP_024306000.1:p.Asp1603Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X9 XM_047433912.1:c.4783G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X9 XP_047289868.1:p.Asp1595A…

XP_047289868.1:p.Asp1595Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X10 XM_047433913.1:c.4780G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X10 XP_047289869.1:p.Asp1594A…

XP_047289869.1:p.Asp1594Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X11 XM_047433914.1:c.4777G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X11 XP_047289870.1:p.Asp1593A…

XP_047289870.1:p.Asp1593Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X12 XM_017023150.3:c.4771G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X12 XP_016878639.1:p.Asp1591A…

XP_016878639.1:p.Asp1591Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X13 XM_047433915.1:c.4765G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X13 XP_047289871.1:p.Asp1589A…

XP_047289871.1:p.Asp1589Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X14 XM_047433916.1:c.4750G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X14 XP_047289872.1:p.Asp1584A…

XP_047289872.1:p.Asp1584Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X15 XM_047433917.1:c.4744G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X15 XP_047289873.1:p.Asp1582A…

XP_047289873.1:p.Asp1582Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X16 XM_047433918.1:c.4738G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X16 XP_047289874.1:p.Asp1580A…

XP_047289874.1:p.Asp1580Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X17 XM_047433919.1:c.4732G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X17 XP_047289875.1:p.Asp1578A…

XP_047289875.1:p.Asp1578Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X18 XM_047433920.1:c.4711G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X18 XP_047289876.1:p.Asp1571A…

XP_047289876.1:p.Asp1571Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X19 XM_024450233.2:c.4663G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X19 XP_024306001.1:p.Asp1555A…

XP_024306001.1:p.Asp1555Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X20 XM_047433921.1:c.4636G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X20 XP_047289877.1:p.Asp1546A…

XP_047289877.1:p.Asp1546Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X21 XM_047433922.1:c.4630G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X21 XP_047289878.1:p.Asp1544A…

XP_047289878.1:p.Asp1544Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X22 XM_047433923.1:c.4603G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X22 XP_047289879.1:p.Asp1535A…

XP_047289879.1:p.Asp1535Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X23 XM_047433924.1:c.4594G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X23 XP_047289880.1:p.Asp1532A…

XP_047289880.1:p.Asp1532Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X24 XM_047433925.1:c.4588G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X24 XP_047289881.1:p.Asp1530A…

XP_047289881.1:p.Asp1530Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X25 XM_047433926.1:c.4567G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X25 XP_047289882.1:p.Asp1523A…

XP_047289882.1:p.Asp1523Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X26 XM_047433927.1:c.4561G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X26 XP_047289883.1:p.Asp1521A…

XP_047289883.1:p.Asp1521Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X27 XM_017023152.3:c.4561G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X27 XP_016878641.1:p.Asp1521A…

XP_016878641.1:p.Asp1521Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X28 XM_047433928.1:c.4555G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X28 XP_047289884.1:p.Asp1519A…

XP_047289884.1:p.Asp1519Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X29 XM_047433929.1:c.4555G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X29 XP_047289885.1:p.Asp1519A…

XP_047289885.1:p.Asp1519Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X30 XM_047433930.1:c.4534G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X30 XP_047289886.1:p.Asp1512A…

XP_047289886.1:p.Asp1512Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X31 XM_047433931.1:c.4534G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X31 XP_047289887.1:p.Asp1512A…

XP_047289887.1:p.Asp1512Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X32 XM_047433932.1:c.4522G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X32 XP_047289888.1:p.Asp1508A…

XP_047289888.1:p.Asp1508Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X33 XM_047433933.1:c.4486G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X33 XP_047289889.1:p.Asp1496A…

XP_047289889.1:p.Asp1496Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X34 XM_047433934.1:c.4453G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X34 XP_047289890.1:p.Asp1485A…

XP_047289890.1:p.Asp1485Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X35 XM_047433935.1:c.4387G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X35 XP_047289891.1:p.Asp1463A…

XP_047289891.1:p.Asp1463Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X36 XM_047433936.1:c.4210G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X36 XP_047289892.1:p.Asp1404A…

XP_047289892.1:p.Asp1404Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X37 XM_047433937.1:c.4201G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289893.1:p.Asp1401A…

XP_047289893.1:p.Asp1401Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X38 XM_047433938.1:c.4201G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289894.1:p.Asp1401A…

XP_047289894.1:p.Asp1401Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X39 XM_017023153.2:c.4201G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X37 XP_016878642.1:p.Asp1401A…

XP_016878642.1:p.Asp1401Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X40 XM_047433939.1:c.4201G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289895.1:p.Asp1401A…

XP_047289895.1:p.Asp1401Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X41 XM_047433940.1:c.4201G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289896.1:p.Asp1401A…

XP_047289896.1:p.Asp1401Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X42 XM_005255257.5:c.4201G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X37 XP_005255314.1:p.Asp1401A…

XP_005255314.1:p.Asp1401Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X43 XM_047433941.1:c.4177G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X38 XP_047289897.1:p.Asp1393A…

XP_047289897.1:p.Asp1393Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X44 XM_047433942.1:c.4162G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X39 XP_047289898.1:p.Asp1388A…

XP_047289898.1:p.Asp1388Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X45 XM_047433943.1:c.4141G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X40 XP_047289899.1:p.Asp1381A…

XP_047289899.1:p.Asp1381Asn

D (Asp) > N (Asn) Missense Variant
TNRC6A transcript variant X46 XM_047433944.1:c.4096G>A D [GAC] > N [AAC] Coding Sequence Variant
trinucleotide repeat-containing gene 6A protein isoform X41 XP_047289900.1:p.Asp1366A…

XP_047289900.1:p.Asp1366Asn

D (Asp) > 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 G= A
GRCh38.p14 chr 16 NC_000016.10:g.24816944= NC_000016.10:g.24816944G>A
GRCh37.p13 chr 16 NC_000016.9:g.24828265= NC_000016.9:g.24828265G>A
GRCh38.p14 chr 16 fix patch HG2471_PATCH NW_021160019.1:g.67644= NW_021160019.1:g.67644G>A
TNRC6A transcript variant X42 XM_005255257.5:c.4201= XM_005255257.5:c.4201G>A
TNRC6A transcript variant X11 XM_005255257.4:c.4201= XM_005255257.4:c.4201G>A
TNRC6A transcript variant X7 XM_005255257.3:c.4201= XM_005255257.3:c.4201G>A
TNRC6A transcript variant X5 XM_005255257.2:c.4201= XM_005255257.2:c.4201G>A
TNRC6A transcript variant X5 XM_005255257.1:c.4201= XM_005255257.1:c.4201G>A
TNRC6A transcript variant 1 NM_014494.4:c.4960= NM_014494.4:c.4960G>A
TNRC6A transcript variant 1 NM_014494.3:c.4960= NM_014494.3:c.4960G>A
TNRC6A transcript variant 1 NM_014494.2:c.4960= NM_014494.2:c.4960G>A
TNRC6A transcript variant X2 XM_017023144.3:c.4954= XM_017023144.3:c.4954G>A
TNRC6A transcript variant X2 XM_017023144.2:c.4954= XM_017023144.2:c.4954G>A
TNRC6A transcript variant X2 XM_017023144.1:c.4954= XM_017023144.1:c.4954G>A
TNRC6A transcript variant X4 XM_017023145.3:c.4918= XM_017023145.3:c.4918G>A
TNRC6A transcript variant X3 XM_017023145.2:c.4918= XM_017023145.2:c.4918G>A
TNRC6A transcript variant X3 XM_017023145.1:c.4918= XM_017023145.1:c.4918G>A
TNRC6A transcript variant X7 XM_017023148.3:c.4810= XM_017023148.3:c.4810G>A
TNRC6A transcript variant X5 XM_017023148.2:c.4810= XM_017023148.2:c.4810G>A
TNRC6A transcript variant X7 XM_017023148.1:c.4810= XM_017023148.1:c.4810G>A
TNRC6A transcript variant X12 XM_017023150.3:c.4771= XM_017023150.3:c.4771G>A
TNRC6A transcript variant X7 XM_017023150.2:c.4771= XM_017023150.2:c.4771G>A
TNRC6A transcript variant X9 XM_017023150.1:c.4771= XM_017023150.1:c.4771G>A
TNRC6A transcript variant 2 NM_001330520.3:c.4813= NM_001330520.3:c.4813G>A
TNRC6A transcript variant 2 NM_001330520.2:c.4813= NM_001330520.2:c.4813G>A
TNRC6A transcript variant 2 NM_001330520.1:c.4813= NM_001330520.1:c.4813G>A
TNRC6A transcript variant X27 XM_017023152.3:c.4561= XM_017023152.3:c.4561G>A
TNRC6A transcript variant X9 XM_017023152.2:c.4561= XM_017023152.2:c.4561G>A
TNRC6A transcript variant X11 XM_017023152.1:c.4561= XM_017023152.1:c.4561G>A
TNRC6A transcript variant X1 XM_024450231.2:c.4987= XM_024450231.2:c.4987G>A
TNRC6A transcript variant X1 XM_024450231.1:c.4987= XM_024450231.1:c.4987G>A
TNRC6A transcript variant 3 NM_001351850.2:c.4840= NM_001351850.2:c.4840G>A
TNRC6A transcript variant 3 NM_001351850.1:c.4840= NM_001351850.1:c.4840G>A
TNRC6A transcript variant X8 XM_024450232.2:c.4807= XM_024450232.2:c.4807G>A
TNRC6A transcript variant X6 XM_024450232.1:c.4807= XM_024450232.1:c.4807G>A
TNRC6A transcript variant X5 XM_017023146.2:c.4912= XM_017023146.2:c.4912G>A
TNRC6A transcript variant X4 XM_017023146.1:c.4912= XM_017023146.1:c.4912G>A
TNRC6A transcript variant X39 XM_017023153.2:c.4201= XM_017023153.2:c.4201G>A
TNRC6A transcript variant X10 XM_017023153.1:c.4201= XM_017023153.1:c.4201G>A
TNRC6A transcript variant X19 XM_024450233.2:c.4663= XM_024450233.2:c.4663G>A
TNRC6A transcript variant X8 XM_024450233.1:c.4663= XM_024450233.1:c.4663G>A
TNRC6A transcript variant X3 XM_047433910.1:c.4927= XM_047433910.1:c.4927G>A
TNRC6A transcript variant X11 XM_047433914.1:c.4777= XM_047433914.1:c.4777G>A
TNRC6A transcript variant X16 XM_047433918.1:c.4738= XM_047433918.1:c.4738G>A
TNRC6A transcript variant X40 XM_047433939.1:c.4201= XM_047433939.1:c.4201G>A
TNRC6A transcript variant X41 XM_047433940.1:c.4201= XM_047433940.1:c.4201G>A
TNRC6A transcript variant X9 XM_047433912.1:c.4783= XM_047433912.1:c.4783G>A
TNRC6A transcript variant X10 XM_047433913.1:c.4780= XM_047433913.1:c.4780G>A
TNRC6A transcript variant X6 XM_047433911.1:c.4879= XM_047433911.1:c.4879G>A
TNRC6A transcript variant X21 XM_047433922.1:c.4630= XM_047433922.1:c.4630G>A
TNRC6A transcript variant X13 XM_047433915.1:c.4765= XM_047433915.1:c.4765G>A
TNRC6A transcript variant X14 XM_047433916.1:c.4750= XM_047433916.1:c.4750G>A
TNRC6A transcript variant X15 XM_047433917.1:c.4744= XM_047433917.1:c.4744G>A
TNRC6A transcript variant X23 XM_047433924.1:c.4594= XM_047433924.1:c.4594G>A
TNRC6A transcript variant X18 XM_047433920.1:c.4711= XM_047433920.1:c.4711G>A
TNRC6A transcript variant X26 XM_047433927.1:c.4561= XM_047433927.1:c.4561G>A
TNRC6A transcript variant X37 XM_047433937.1:c.4201= XM_047433937.1:c.4201G>A
TNRC6A transcript variant X38 XM_047433938.1:c.4201= XM_047433938.1:c.4201G>A
TNRC6A transcript variant X20 XM_047433921.1:c.4636= XM_047433921.1:c.4636G>A
TNRC6A transcript variant X17 XM_047433919.1:c.4732= XM_047433919.1:c.4732G>A
TNRC6A transcript variant X22 XM_047433923.1:c.4603= XM_047433923.1:c.4603G>A
TNRC6A transcript variant X24 XM_047433925.1:c.4588= XM_047433925.1:c.4588G>A
TNRC6A transcript variant X25 XM_047433926.1:c.4567= XM_047433926.1:c.4567G>A
TNRC6A transcript variant X29 XM_047433929.1:c.4555= XM_047433929.1:c.4555G>A
TNRC6A transcript variant X31 XM_047433931.1:c.4534= XM_047433931.1:c.4534G>A
TNRC6A transcript variant X30 XM_047433930.1:c.4534= XM_047433930.1:c.4534G>A
TNRC6A transcript variant X28 XM_047433928.1:c.4555= XM_047433928.1:c.4555G>A
TNRC6A transcript variant X32 XM_047433932.1:c.4522= XM_047433932.1:c.4522G>A
TNRC6A transcript variant X35 XM_047433935.1:c.4387= XM_047433935.1:c.4387G>A
TNRC6A transcript variant X33 XM_047433933.1:c.4486= XM_047433933.1:c.4486G>A
TNRC6A transcript variant X34 XM_047433934.1:c.4453= XM_047433934.1:c.4453G>A
TNRC6A transcript variant X36 XM_047433936.1:c.4210= XM_047433936.1:c.4210G>A
TNRC6A transcript variant X43 XM_047433941.1:c.4177= XM_047433941.1:c.4177G>A
TNRC6A transcript variant X44 XM_047433942.1:c.4162= XM_047433942.1:c.4162G>A
TNRC6A transcript variant X45 XM_047433943.1:c.4141= XM_047433943.1:c.4141G>A
TNRC6A transcript variant X46 XM_047433944.1:c.4096= XM_047433944.1:c.4096G>A
TNRC6A transcript variant 2 NM_020847.1:c.4960= NM_020847.1:c.4960G>A
trinucleotide repeat-containing gene 6A protein isoform X37 XP_005255314.1:p.Asp1401= XP_005255314.1:p.Asp1401Asn
trinucleotide repeat-containing gene 6A protein isoform 1 NP_055309.2:p.Asp1654= NP_055309.2:p.Asp1654Asn
trinucleotide repeat-containing gene 6A protein isoform X2 XP_016878633.1:p.Asp1652= XP_016878633.1:p.Asp1652Asn
trinucleotide repeat-containing gene 6A protein isoform X4 XP_016878634.1:p.Asp1640= XP_016878634.1:p.Asp1640Asn
trinucleotide repeat-containing gene 6A protein isoform X7 XP_016878637.1:p.Asp1604= XP_016878637.1:p.Asp1604Asn
trinucleotide repeat-containing gene 6A protein isoform X12 XP_016878639.1:p.Asp1591= XP_016878639.1:p.Asp1591Asn
trinucleotide repeat-containing gene 6A protein isoform 2 NP_001317449.1:p.Asp1605= NP_001317449.1:p.Asp1605Asn
trinucleotide repeat-containing gene 6A protein isoform X27 XP_016878641.1:p.Asp1521= XP_016878641.1:p.Asp1521Asn
trinucleotide repeat-containing gene 6A protein isoform X1 XP_024305999.1:p.Asp1663= XP_024305999.1:p.Asp1663Asn
trinucleotide repeat-containing gene 6A protein isoform 3 NP_001338779.1:p.Asp1614= NP_001338779.1:p.Asp1614Asn
trinucleotide repeat-containing gene 6A protein isoform X8 XP_024306000.1:p.Asp1603= XP_024306000.1:p.Asp1603Asn
trinucleotide repeat-containing gene 6A protein isoform X5 XP_016878635.1:p.Asp1638= XP_016878635.1:p.Asp1638Asn
trinucleotide repeat-containing gene 6A protein isoform X37 XP_016878642.1:p.Asp1401= XP_016878642.1:p.Asp1401Asn
trinucleotide repeat-containing gene 6A protein isoform X19 XP_024306001.1:p.Asp1555= XP_024306001.1:p.Asp1555Asn
trinucleotide repeat-containing gene 6A protein isoform X3 XP_047289866.1:p.Asp1643= XP_047289866.1:p.Asp1643Asn
trinucleotide repeat-containing gene 6A protein isoform X11 XP_047289870.1:p.Asp1593= XP_047289870.1:p.Asp1593Asn
trinucleotide repeat-containing gene 6A protein isoform X16 XP_047289874.1:p.Asp1580= XP_047289874.1:p.Asp1580Asn
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289895.1:p.Asp1401= XP_047289895.1:p.Asp1401Asn
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289896.1:p.Asp1401= XP_047289896.1:p.Asp1401Asn
trinucleotide repeat-containing gene 6A protein isoform X9 XP_047289868.1:p.Asp1595= XP_047289868.1:p.Asp1595Asn
trinucleotide repeat-containing gene 6A protein isoform X10 XP_047289869.1:p.Asp1594= XP_047289869.1:p.Asp1594Asn
trinucleotide repeat-containing gene 6A protein isoform X6 XP_047289867.1:p.Asp1627= XP_047289867.1:p.Asp1627Asn
trinucleotide repeat-containing gene 6A protein isoform X21 XP_047289878.1:p.Asp1544= XP_047289878.1:p.Asp1544Asn
trinucleotide repeat-containing gene 6A protein isoform X13 XP_047289871.1:p.Asp1589= XP_047289871.1:p.Asp1589Asn
trinucleotide repeat-containing gene 6A protein isoform X14 XP_047289872.1:p.Asp1584= XP_047289872.1:p.Asp1584Asn
trinucleotide repeat-containing gene 6A protein isoform X15 XP_047289873.1:p.Asp1582= XP_047289873.1:p.Asp1582Asn
trinucleotide repeat-containing gene 6A protein isoform X23 XP_047289880.1:p.Asp1532= XP_047289880.1:p.Asp1532Asn
trinucleotide repeat-containing gene 6A protein isoform X18 XP_047289876.1:p.Asp1571= XP_047289876.1:p.Asp1571Asn
trinucleotide repeat-containing gene 6A protein isoform X26 XP_047289883.1:p.Asp1521= XP_047289883.1:p.Asp1521Asn
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289893.1:p.Asp1401= XP_047289893.1:p.Asp1401Asn
trinucleotide repeat-containing gene 6A protein isoform X37 XP_047289894.1:p.Asp1401= XP_047289894.1:p.Asp1401Asn
trinucleotide repeat-containing gene 6A protein isoform X20 XP_047289877.1:p.Asp1546= XP_047289877.1:p.Asp1546Asn
trinucleotide repeat-containing gene 6A protein isoform X17 XP_047289875.1:p.Asp1578= XP_047289875.1:p.Asp1578Asn
trinucleotide repeat-containing gene 6A protein isoform X22 XP_047289879.1:p.Asp1535= XP_047289879.1:p.Asp1535Asn
trinucleotide repeat-containing gene 6A protein isoform X24 XP_047289881.1:p.Asp1530= XP_047289881.1:p.Asp1530Asn
trinucleotide repeat-containing gene 6A protein isoform X25 XP_047289882.1:p.Asp1523= XP_047289882.1:p.Asp1523Asn
trinucleotide repeat-containing gene 6A protein isoform X29 XP_047289885.1:p.Asp1519= XP_047289885.1:p.Asp1519Asn
trinucleotide repeat-containing gene 6A protein isoform X31 XP_047289887.1:p.Asp1512= XP_047289887.1:p.Asp1512Asn
trinucleotide repeat-containing gene 6A protein isoform X30 XP_047289886.1:p.Asp1512= XP_047289886.1:p.Asp1512Asn
trinucleotide repeat-containing gene 6A protein isoform X28 XP_047289884.1:p.Asp1519= XP_047289884.1:p.Asp1519Asn
trinucleotide repeat-containing gene 6A protein isoform X32 XP_047289888.1:p.Asp1508= XP_047289888.1:p.Asp1508Asn
trinucleotide repeat-containing gene 6A protein isoform X35 XP_047289891.1:p.Asp1463= XP_047289891.1:p.Asp1463Asn
trinucleotide repeat-containing gene 6A protein isoform X33 XP_047289889.1:p.Asp1496= XP_047289889.1:p.Asp1496Asn
trinucleotide repeat-containing gene 6A protein isoform X34 XP_047289890.1:p.Asp1485= XP_047289890.1:p.Asp1485Asn
trinucleotide repeat-containing gene 6A protein isoform X36 XP_047289892.1:p.Asp1404= XP_047289892.1:p.Asp1404Asn
trinucleotide repeat-containing gene 6A protein isoform X38 XP_047289897.1:p.Asp1393= XP_047289897.1:p.Asp1393Asn
trinucleotide repeat-containing gene 6A protein isoform X39 XP_047289898.1:p.Asp1388= XP_047289898.1:p.Asp1388Asn
trinucleotide repeat-containing gene 6A protein isoform X40 XP_047289899.1:p.Asp1381= XP_047289899.1:p.Asp1381Asn
trinucleotide repeat-containing gene 6A protein isoform X41 XP_047289900.1:p.Asp1366= XP_047289900.1:p.Asp1366Asn
Help

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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2741851810 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000016.9 - 24828265 Jul 13, 2019 (153)
Help

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
11130805, ss2741851810 NC_000016.9:24828264:G:A NC_000016.10:24816943:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1485246560

Help

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