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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.

rs1475350614

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:85514161 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00000 (0/14050, ALFA)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SNX14 : Synonymous 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 G=1.00000 A=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 A=0.000, T=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
Allele Frequency Aggregator Total Global 14050 G=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=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 6 NC_000006.12:g.85514161G>A
GRCh38.p14 chr 6 NC_000006.12:g.85514161G>T
GRCh37.p13 chr 6 NC_000006.11:g.86223879G>A
GRCh37.p13 chr 6 NC_000006.11:g.86223879G>T
SNX14 RefSeqGene NG_047171.1:g.84996C>T
SNX14 RefSeqGene NG_047171.1:g.84996C>A
Gene: SNX14, sorting nexin 14 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SNX14 transcript variant 13 NM_001350540.2:c.2393-266…

NM_001350540.2:c.2393-266C>T

N/A Intron Variant
SNX14 transcript variant 14 NM_001350541.2:c.2366-266…

NM_001350541.2:c.2366-266C>T

N/A Intron Variant
SNX14 transcript variant 1 NM_153816.6:c.2466C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform a NP_722523.1:p.Thr822= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 1 NM_153816.6:c.2466C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform a NP_722523.1:p.Thr822= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 17 NM_001350544.2:c.2166C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform q NP_001337473.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 17 NM_001350544.2:c.2166C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform q NP_001337473.1:p.Thr722= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 6 NM_001350533.2:c.2463C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform f NP_001337462.1:p.Thr821= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 6 NM_001350533.2:c.2463C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform f NP_001337462.1:p.Thr821= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 24 NM_001350551.2:c.1311C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337480.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 24 NM_001350551.2:c.1311C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337480.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 9 NM_001350536.2:c.2334C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform i NP_001337465.1:p.Thr778= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 9 NM_001350536.2:c.2334C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform i NP_001337465.1:p.Thr778= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 11 NM_001350538.2:c.2322C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform k NP_001337467.1:p.Thr774= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 11 NM_001350538.2:c.2322C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform k NP_001337467.1:p.Thr774= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 15 NM_001350542.2:c.2178C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform o NP_001337471.1:p.Thr726= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 15 NM_001350542.2:c.2178C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform o NP_001337471.1:p.Thr726= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 4 NM_001304479.2:c.2310C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform d NP_001291408.1:p.Thr770= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 4 NM_001304479.2:c.2310C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform d NP_001291408.1:p.Thr770= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 8 NM_001350535.2:c.2463C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform h NP_001337464.1:p.Thr821= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 8 NM_001350535.2:c.2463C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform h NP_001337464.1:p.Thr821= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 19 NM_001350546.2:c.2022C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform r NP_001337475.1:p.Thr674= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 19 NM_001350546.2:c.2022C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform r NP_001337475.1:p.Thr674= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 18 NM_001350545.2:c.2022C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform r NP_001337474.1:p.Thr674= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 18 NM_001350545.2:c.2022C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform r NP_001337474.1:p.Thr674= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 22 NM_001350549.2:c.1311C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337478.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 22 NM_001350549.2:c.1311C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337478.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 7 NM_001350534.2:c.2436C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform g NP_001337463.1:p.Thr812= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 7 NM_001350534.2:c.2436C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform g NP_001337463.1:p.Thr812= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 26 NM_001350553.2:c.1284C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform u NP_001337482.1:p.Thr428= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 26 NM_001350553.2:c.1284C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform u NP_001337482.1:p.Thr428= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 3 NM_001297614.3:c.2439C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform c NP_001284543.1:p.Thr813= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 3 NM_001297614.3:c.2439C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform c NP_001284543.1:p.Thr813= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 12 NM_001350539.2:c.2307C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform l NP_001337468.1:p.Thr769= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 12 NM_001350539.2:c.2307C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform l NP_001337468.1:p.Thr769= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 5 NM_001350532.2:c.2529C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform e NP_001337461.1:p.Thr843= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 5 NM_001350532.2:c.2529C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform e NP_001337461.1:p.Thr843= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 2 NM_020468.6:c.2307C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform b NP_065201.1:p.Thr769= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 2 NM_020468.6:c.2307C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform b NP_065201.1:p.Thr769= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 20 NM_001350547.2:c.1416C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform s NP_001337476.1:p.Thr472= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 20 NM_001350547.2:c.1416C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform s NP_001337476.1:p.Thr472= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 16 NM_001350543.2:c.2175C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform p NP_001337472.1:p.Thr725= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 16 NM_001350543.2:c.2175C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform p NP_001337472.1:p.Thr725= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 21 NM_001350548.2:c.1311C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337477.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 21 NM_001350548.2:c.1311C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337477.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 10 NM_001350537.2:c.2331C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform j NP_001337466.1:p.Thr777= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 10 NM_001350537.2:c.2331C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform j NP_001337466.1:p.Thr777= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 25 NM_001350552.2:c.1311C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337481.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 25 NM_001350552.2:c.1311C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337481.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 23 NM_001350550.2:c.1311C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337479.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 23 NM_001350550.2:c.1311C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform t NP_001337479.1:p.Thr437= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant 29 NR_146776.2:n.2474C>T N/A Non Coding Transcript Variant
SNX14 transcript variant 29 NR_146776.2:n.2474C>A N/A Non Coding Transcript Variant
SNX14 transcript variant 28 NR_146775.2:n.2351C>T N/A Non Coding Transcript Variant
SNX14 transcript variant 28 NR_146775.2:n.2351C>A N/A Non Coding Transcript Variant
SNX14 transcript variant 30 NR_146777.2:n.2602C>T N/A Non Coding Transcript Variant
SNX14 transcript variant 30 NR_146777.2:n.2602C>A N/A Non Coding Transcript Variant
SNX14 transcript variant 27 NR_146774.2:n.2348C>T N/A Non Coding Transcript Variant
SNX14 transcript variant 27 NR_146774.2:n.2348C>A N/A Non Coding Transcript Variant
SNX14 transcript variant 32 NR_146779.2:n.2603C>T N/A Non Coding Transcript Variant
SNX14 transcript variant 32 NR_146779.2:n.2603C>A N/A Non Coding Transcript Variant
SNX14 transcript variant 31 NR_146778.2:n.2606C>T N/A Non Coding Transcript Variant
SNX14 transcript variant 31 NR_146778.2:n.2606C>A N/A Non Coding Transcript Variant
SNX14 transcript variant X1 XM_011535977.3:c.2466C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X1 XP_011534279.2:p.Thr822= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X1 XM_011535977.3:c.2466C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X1 XP_011534279.2:p.Thr822= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X2 XM_047419120.1:c.2310C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X2 XP_047275076.1:p.Thr770= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X2 XM_047419120.1:c.2310C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X2 XP_047275076.1:p.Thr770= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X3 XM_017011090.2:c.2307C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X3 XP_016866579.1:p.Thr769= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X3 XM_017011090.2:c.2307C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X3 XP_016866579.1:p.Thr769= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X4 XM_047419121.1:c.2304C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X4 XP_047275077.1:p.Thr768= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X4 XM_047419121.1:c.2304C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X4 XP_047275077.1:p.Thr768= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X5 XM_047419122.1:c.2283C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X5 XP_047275078.1:p.Thr761= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X5 XM_047419122.1:c.2283C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X5 XP_047275078.1:p.Thr761= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X6 XM_047419123.1:c.2283C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X5 XP_047275079.1:p.Thr761= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X6 XM_047419123.1:c.2283C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X5 XP_047275079.1:p.Thr761= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X7 XM_047419124.1:c.2280C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X6 XP_047275080.1:p.Thr760= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X7 XM_047419124.1:c.2280C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X6 XP_047275080.1:p.Thr760= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X8 XM_047419125.1:c.2439C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X7 XP_047275081.1:p.Thr813= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X8 XM_047419125.1:c.2439C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X7 XP_047275081.1:p.Thr813= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X9 XM_047419126.1:c.2178C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X8 XP_047275082.1:p.Thr726= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X9 XM_047419126.1:c.2178C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X8 XP_047275082.1:p.Thr726= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X10 XM_047419127.1:c.2151C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X9 XP_047275083.1:p.Thr717= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X10 XM_047419127.1:c.2151C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X9 XP_047275083.1:p.Thr717= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X11 XM_047419128.1:c.2148C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X10 XP_047275084.1:p.Thr716= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X11 XM_047419128.1:c.2148C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X10 XP_047275084.1:p.Thr716= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X12 XM_047419129.1:c.2148C>T T [ACC] > T [ACT] Coding Sequence Variant
sorting nexin-14 isoform X10 XP_047275085.1:p.Thr716= T (Thr) > T (Thr) Synonymous Variant
SNX14 transcript variant X12 XM_047419129.1:c.2148C>A T [ACC] > T [ACA] Coding Sequence Variant
sorting nexin-14 isoform X10 XP_047275085.1:p.Thr716= T (Thr) > T (Thr) Synonymous 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 T
GRCh38.p14 chr 6 NC_000006.12:g.85514161= NC_000006.12:g.85514161G>A NC_000006.12:g.85514161G>T
GRCh37.p13 chr 6 NC_000006.11:g.86223879= NC_000006.11:g.86223879G>A NC_000006.11:g.86223879G>T
SNX14 RefSeqGene NG_047171.1:g.84996= NG_047171.1:g.84996C>T NG_047171.1:g.84996C>A
SNX14 transcript variant 1 NM_153816.6:c.2466= NM_153816.6:c.2466C>T NM_153816.6:c.2466C>A
SNX14 transcript variant 1 NM_153816.5:c.2466= NM_153816.5:c.2466C>T NM_153816.5:c.2466C>A
SNX14 transcript variant 1 NM_153816.4:c.2466= NM_153816.4:c.2466C>T NM_153816.4:c.2466C>A
SNX14 transcript variant 1 NM_153816.3:c.2466= NM_153816.3:c.2466C>T NM_153816.3:c.2466C>A
SNX14 transcript variant 2 NM_020468.6:c.2307= NM_020468.6:c.2307C>T NM_020468.6:c.2307C>A
SNX14 transcript variant 2 NM_020468.5:c.2307= NM_020468.5:c.2307C>T NM_020468.5:c.2307C>A
SNX14 transcript variant 2 NM_020468.4:c.2307= NM_020468.4:c.2307C>T NM_020468.4:c.2307C>A
SNX14 transcript variant 2 NM_020468.3:c.2307= NM_020468.3:c.2307C>T NM_020468.3:c.2307C>A
SNX14 transcript variant 3 NM_001297614.3:c.2439= NM_001297614.3:c.2439C>T NM_001297614.3:c.2439C>A
SNX14 transcript variant 3 NM_001297614.2:c.2439= NM_001297614.2:c.2439C>T NM_001297614.2:c.2439C>A
SNX14 transcript variant 3 NM_001297614.1:c.2439= NM_001297614.1:c.2439C>T NM_001297614.1:c.2439C>A
SNX14 transcript variant 31 NR_146778.2:n.2606= NR_146778.2:n.2606C>T NR_146778.2:n.2606C>A
SNX14 transcript variant 31 NR_146778.1:n.2904= NR_146778.1:n.2904C>T NR_146778.1:n.2904C>A
SNX14 transcript variant 32 NR_146779.2:n.2603= NR_146779.2:n.2603C>T NR_146779.2:n.2603C>A
SNX14 transcript variant 32 NR_146779.1:n.2901= NR_146779.1:n.2901C>T NR_146779.1:n.2901C>A
SNX14 transcript variant 30 NR_146777.2:n.2602= NR_146777.2:n.2602C>T NR_146777.2:n.2602C>A
SNX14 transcript variant 30 NR_146777.1:n.2900= NR_146777.1:n.2900C>T NR_146777.1:n.2900C>A
SNX14 transcript variant 29 NR_146776.2:n.2474= NR_146776.2:n.2474C>T NR_146776.2:n.2474C>A
SNX14 transcript variant 29 NR_146776.1:n.2772= NR_146776.1:n.2772C>T NR_146776.1:n.2772C>A
SNX14 transcript variant 5 NM_001350532.2:c.2529= NM_001350532.2:c.2529C>T NM_001350532.2:c.2529C>A
SNX14 transcript variant 5 NM_001350532.1:c.2529= NM_001350532.1:c.2529C>T NM_001350532.1:c.2529C>A
SNX14 transcript variant 25 NM_001350552.2:c.1311= NM_001350552.2:c.1311C>T NM_001350552.2:c.1311C>A
SNX14 transcript variant 25 NM_001350552.1:c.1311= NM_001350552.1:c.1311C>T NM_001350552.1:c.1311C>A
SNX14 transcript variant 28 NR_146775.2:n.2351= NR_146775.2:n.2351C>T NR_146775.2:n.2351C>A
SNX14 transcript variant 28 NR_146775.1:n.2649= NR_146775.1:n.2649C>T NR_146775.1:n.2649C>A
SNX14 transcript variant 6 NM_001350533.2:c.2463= NM_001350533.2:c.2463C>T NM_001350533.2:c.2463C>A
SNX14 transcript variant 6 NM_001350533.1:c.2463= NM_001350533.1:c.2463C>T NM_001350533.1:c.2463C>A
SNX14 transcript variant 27 NR_146774.2:n.2348= NR_146774.2:n.2348C>T NR_146774.2:n.2348C>A
SNX14 transcript variant 27 NR_146774.1:n.2646= NR_146774.1:n.2646C>T NR_146774.1:n.2646C>A
SNX14 transcript variant 23 NM_001350550.2:c.1311= NM_001350550.2:c.1311C>T NM_001350550.2:c.1311C>A
SNX14 transcript variant 23 NM_001350550.1:c.1311= NM_001350550.1:c.1311C>T NM_001350550.1:c.1311C>A
SNX14 transcript variant 7 NM_001350534.2:c.2436= NM_001350534.2:c.2436C>T NM_001350534.2:c.2436C>A
SNX14 transcript variant 7 NM_001350534.1:c.2436= NM_001350534.1:c.2436C>T NM_001350534.1:c.2436C>A
SNX14 transcript variant 8 NM_001350535.2:c.2463= NM_001350535.2:c.2463C>T NM_001350535.2:c.2463C>A
SNX14 transcript variant 8 NM_001350535.1:c.2463= NM_001350535.1:c.2463C>T NM_001350535.1:c.2463C>A
SNX14 transcript variant 18 NM_001350545.2:c.2022= NM_001350545.2:c.2022C>T NM_001350545.2:c.2022C>A
SNX14 transcript variant 18 NM_001350545.1:c.2022= NM_001350545.1:c.2022C>T NM_001350545.1:c.2022C>A
SNX14 transcript variant 24 NM_001350551.2:c.1311= NM_001350551.2:c.1311C>T NM_001350551.2:c.1311C>A
SNX14 transcript variant 24 NM_001350551.1:c.1311= NM_001350551.1:c.1311C>T NM_001350551.1:c.1311C>A
SNX14 transcript variant 9 NM_001350536.2:c.2334= NM_001350536.2:c.2334C>T NM_001350536.2:c.2334C>A
SNX14 transcript variant 9 NM_001350536.1:c.2334= NM_001350536.1:c.2334C>T NM_001350536.1:c.2334C>A
SNX14 transcript variant 10 NM_001350537.2:c.2331= NM_001350537.2:c.2331C>T NM_001350537.2:c.2331C>A
SNX14 transcript variant 10 NM_001350537.1:c.2331= NM_001350537.1:c.2331C>T NM_001350537.1:c.2331C>A
SNX14 transcript variant 21 NM_001350548.2:c.1311= NM_001350548.2:c.1311C>T NM_001350548.2:c.1311C>A
SNX14 transcript variant 21 NM_001350548.1:c.1311= NM_001350548.1:c.1311C>T NM_001350548.1:c.1311C>A
SNX14 transcript variant 11 NM_001350538.2:c.2322= NM_001350538.2:c.2322C>T NM_001350538.2:c.2322C>A
SNX14 transcript variant 11 NM_001350538.1:c.2322= NM_001350538.1:c.2322C>T NM_001350538.1:c.2322C>A
SNX14 transcript variant 4 NM_001304479.2:c.2310= NM_001304479.2:c.2310C>T NM_001304479.2:c.2310C>A
SNX14 transcript variant 4 NM_001304479.1:c.2310= NM_001304479.1:c.2310C>T NM_001304479.1:c.2310C>A
SNX14 transcript variant 12 NM_001350539.2:c.2307= NM_001350539.2:c.2307C>T NM_001350539.2:c.2307C>A
SNX14 transcript variant 12 NM_001350539.1:c.2307= NM_001350539.1:c.2307C>T NM_001350539.1:c.2307C>A
SNX14 transcript variant 22 NM_001350549.2:c.1311= NM_001350549.2:c.1311C>T NM_001350549.2:c.1311C>A
SNX14 transcript variant 22 NM_001350549.1:c.1311= NM_001350549.1:c.1311C>T NM_001350549.1:c.1311C>A
SNX14 transcript variant 26 NM_001350553.2:c.1284= NM_001350553.2:c.1284C>T NM_001350553.2:c.1284C>A
SNX14 transcript variant 26 NM_001350553.1:c.1284= NM_001350553.1:c.1284C>T NM_001350553.1:c.1284C>A
SNX14 transcript variant 19 NM_001350546.2:c.2022= NM_001350546.2:c.2022C>T NM_001350546.2:c.2022C>A
SNX14 transcript variant 19 NM_001350546.1:c.2022= NM_001350546.1:c.2022C>T NM_001350546.1:c.2022C>A
SNX14 transcript variant 20 NM_001350547.2:c.1416= NM_001350547.2:c.1416C>T NM_001350547.2:c.1416C>A
SNX14 transcript variant 20 NM_001350547.1:c.1416= NM_001350547.1:c.1416C>T NM_001350547.1:c.1416C>A
SNX14 transcript variant 15 NM_001350542.2:c.2178= NM_001350542.2:c.2178C>T NM_001350542.2:c.2178C>A
SNX14 transcript variant 15 NM_001350542.1:c.2178= NM_001350542.1:c.2178C>T NM_001350542.1:c.2178C>A
SNX14 transcript variant 16 NM_001350543.2:c.2175= NM_001350543.2:c.2175C>T NM_001350543.2:c.2175C>A
SNX14 transcript variant 16 NM_001350543.1:c.2175= NM_001350543.1:c.2175C>T NM_001350543.1:c.2175C>A
SNX14 transcript variant 17 NM_001350544.2:c.2166= NM_001350544.2:c.2166C>T NM_001350544.2:c.2166C>A
SNX14 transcript variant 17 NM_001350544.1:c.2166= NM_001350544.1:c.2166C>T NM_001350544.1:c.2166C>A
SNX14 transcript variant X1 XM_011535977.3:c.2466= XM_011535977.3:c.2466C>T XM_011535977.3:c.2466C>A
SNX14 transcript variant X3 XM_011535977.2:c.2310= XM_011535977.2:c.2310C>T XM_011535977.2:c.2310C>A
SNX14 transcript variant X2 XM_011535977.1:c.2310= XM_011535977.1:c.2310C>T XM_011535977.1:c.2310C>A
SNX14 transcript variant X3 XM_017011090.2:c.2307= XM_017011090.2:c.2307C>T XM_017011090.2:c.2307C>A
SNX14 transcript variant X1 XM_017011090.1:c.2307= XM_017011090.1:c.2307C>T XM_017011090.1:c.2307C>A
SNX14 transcript variant X2 XM_047419120.1:c.2310= XM_047419120.1:c.2310C>T XM_047419120.1:c.2310C>A
SNX14 transcript variant 4 NR_123729.1:n.2625= NR_123729.1:n.2625C>T NR_123729.1:n.2625C>A
SNX14 transcript variant X4 XM_047419121.1:c.2304= XM_047419121.1:c.2304C>T XM_047419121.1:c.2304C>A
SNX14 transcript variant X5 XM_047419122.1:c.2283= XM_047419122.1:c.2283C>T XM_047419122.1:c.2283C>A
SNX14 transcript variant X7 XM_047419124.1:c.2280= XM_047419124.1:c.2280C>T XM_047419124.1:c.2280C>A
SNX14 transcript variant X6 XM_047419123.1:c.2283= XM_047419123.1:c.2283C>T XM_047419123.1:c.2283C>A
SNX14 transcript variant X8 XM_047419125.1:c.2439= XM_047419125.1:c.2439C>T XM_047419125.1:c.2439C>A
SNX14 transcript variant X9 XM_047419126.1:c.2178= XM_047419126.1:c.2178C>T XM_047419126.1:c.2178C>A
SNX14 transcript variant X12 XM_047419129.1:c.2148= XM_047419129.1:c.2148C>T XM_047419129.1:c.2148C>A
SNX14 transcript variant X10 XM_047419127.1:c.2151= XM_047419127.1:c.2151C>T XM_047419127.1:c.2151C>A
SNX14 transcript variant X11 XM_047419128.1:c.2148= XM_047419128.1:c.2148C>T XM_047419128.1:c.2148C>A
sorting nexin-14 isoform a NP_722523.1:p.Thr822= NP_722523.1:p.Thr822= NP_722523.1:p.Thr822=
sorting nexin-14 isoform b NP_065201.1:p.Thr769= NP_065201.1:p.Thr769= NP_065201.1:p.Thr769=
sorting nexin-14 isoform c NP_001284543.1:p.Thr813= NP_001284543.1:p.Thr813= NP_001284543.1:p.Thr813=
sorting nexin-14 isoform e NP_001337461.1:p.Thr843= NP_001337461.1:p.Thr843= NP_001337461.1:p.Thr843=
sorting nexin-14 isoform t NP_001337481.1:p.Thr437= NP_001337481.1:p.Thr437= NP_001337481.1:p.Thr437=
sorting nexin-14 isoform f NP_001337462.1:p.Thr821= NP_001337462.1:p.Thr821= NP_001337462.1:p.Thr821=
sorting nexin-14 isoform t NP_001337479.1:p.Thr437= NP_001337479.1:p.Thr437= NP_001337479.1:p.Thr437=
sorting nexin-14 isoform g NP_001337463.1:p.Thr812= NP_001337463.1:p.Thr812= NP_001337463.1:p.Thr812=
sorting nexin-14 isoform h NP_001337464.1:p.Thr821= NP_001337464.1:p.Thr821= NP_001337464.1:p.Thr821=
sorting nexin-14 isoform r NP_001337474.1:p.Thr674= NP_001337474.1:p.Thr674= NP_001337474.1:p.Thr674=
sorting nexin-14 isoform t NP_001337480.1:p.Thr437= NP_001337480.1:p.Thr437= NP_001337480.1:p.Thr437=
sorting nexin-14 isoform i NP_001337465.1:p.Thr778= NP_001337465.1:p.Thr778= NP_001337465.1:p.Thr778=
sorting nexin-14 isoform j NP_001337466.1:p.Thr777= NP_001337466.1:p.Thr777= NP_001337466.1:p.Thr777=
sorting nexin-14 isoform t NP_001337477.1:p.Thr437= NP_001337477.1:p.Thr437= NP_001337477.1:p.Thr437=
sorting nexin-14 isoform k NP_001337467.1:p.Thr774= NP_001337467.1:p.Thr774= NP_001337467.1:p.Thr774=
sorting nexin-14 isoform d NP_001291408.1:p.Thr770= NP_001291408.1:p.Thr770= NP_001291408.1:p.Thr770=
sorting nexin-14 isoform l NP_001337468.1:p.Thr769= NP_001337468.1:p.Thr769= NP_001337468.1:p.Thr769=
sorting nexin-14 isoform t NP_001337478.1:p.Thr437= NP_001337478.1:p.Thr437= NP_001337478.1:p.Thr437=
sorting nexin-14 isoform u NP_001337482.1:p.Thr428= NP_001337482.1:p.Thr428= NP_001337482.1:p.Thr428=
sorting nexin-14 isoform r NP_001337475.1:p.Thr674= NP_001337475.1:p.Thr674= NP_001337475.1:p.Thr674=
sorting nexin-14 isoform s NP_001337476.1:p.Thr472= NP_001337476.1:p.Thr472= NP_001337476.1:p.Thr472=
sorting nexin-14 isoform o NP_001337471.1:p.Thr726= NP_001337471.1:p.Thr726= NP_001337471.1:p.Thr726=
sorting nexin-14 isoform p NP_001337472.1:p.Thr725= NP_001337472.1:p.Thr725= NP_001337472.1:p.Thr725=
sorting nexin-14 isoform q NP_001337473.1:p.Thr722= NP_001337473.1:p.Thr722= NP_001337473.1:p.Thr722=
sorting nexin-14 isoform X1 XP_011534279.2:p.Thr822= XP_011534279.2:p.Thr822= XP_011534279.2:p.Thr822=
sorting nexin-14 isoform X3 XP_016866579.1:p.Thr769= XP_016866579.1:p.Thr769= XP_016866579.1:p.Thr769=
sorting nexin-14 isoform X2 XP_047275076.1:p.Thr770= XP_047275076.1:p.Thr770= XP_047275076.1:p.Thr770=
sorting nexin-14 isoform X4 XP_047275077.1:p.Thr768= XP_047275077.1:p.Thr768= XP_047275077.1:p.Thr768=
sorting nexin-14 isoform X5 XP_047275078.1:p.Thr761= XP_047275078.1:p.Thr761= XP_047275078.1:p.Thr761=
sorting nexin-14 isoform X6 XP_047275080.1:p.Thr760= XP_047275080.1:p.Thr760= XP_047275080.1:p.Thr760=
sorting nexin-14 isoform X5 XP_047275079.1:p.Thr761= XP_047275079.1:p.Thr761= XP_047275079.1:p.Thr761=
sorting nexin-14 isoform X7 XP_047275081.1:p.Thr813= XP_047275081.1:p.Thr813= XP_047275081.1:p.Thr813=
sorting nexin-14 isoform X8 XP_047275082.1:p.Thr726= XP_047275082.1:p.Thr726= XP_047275082.1:p.Thr726=
sorting nexin-14 isoform X10 XP_047275085.1:p.Thr716= XP_047275085.1:p.Thr716= XP_047275085.1:p.Thr716=
sorting nexin-14 isoform X9 XP_047275083.1:p.Thr717= XP_047275083.1:p.Thr717= XP_047275083.1:p.Thr717=
sorting nexin-14 isoform X10 XP_047275084.1:p.Thr716= XP_047275084.1:p.Thr716= XP_047275084.1:p.Thr716=
SNX14 transcript variant 13 NM_001350540.2:c.2393-266= NM_001350540.2:c.2393-266C>T NM_001350540.2:c.2393-266C>A
SNX14 transcript variant 14 NM_001350541.2:c.2366-266= NM_001350541.2:c.2366-266C>T NM_001350541.2:c.2366-266C>A
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4711278414 Apr 26, 2021 (155)
2 TOPMED ss4711278415 Apr 26, 2021 (155)
3 TopMed

Submission ignored due to conflicting rows:
Row 548655972 (NC_000006.12:85514160:G:A 1/264690)
Row 548655973 (NC_000006.12:85514160:G:T 1/264690)

- Apr 26, 2021 (155)
4 TopMed

Submission ignored due to conflicting rows:
Row 548655972 (NC_000006.12:85514160:G:A 1/264690)
Row 548655973 (NC_000006.12:85514160:G:T 1/264690)

- Apr 26, 2021 (155)
5 ALFA NC_000006.12 - 85514161 Apr 26, 2021 (155)
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
7992426029, ss4711278414 NC_000006.12:85514160:G:A NC_000006.12:85514160:G:A (self)
7992426029, ss4711278415 NC_000006.12:85514160:G:T NC_000006.12:85514160:G:T (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 rs1475350614

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