Name: rs200502673
Published: September 21, 2022
License: Open Access

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.

rs200502673

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:37335152 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.000023 (6/264690, TOPMED)
G=0.00005 (2/44420, ALFA)
G=0.0003 (2/6404, 1000G_30x) (+ 1 more)
G=0.0002 (1/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GOLGA4 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	60782	C=0.99993	G=0.00003, T=0.00003
European	Sub	42740	C=0.99993	G=0.00002, T=0.00005
African	Sub	8350	C=1.0000	G=0.0000, T=0.0000
African Others	Sub	306	C=1.000	G=0.000, T=0.000
African American	Sub	8044	C=1.0000	G=0.0000, T=0.0000
Asian	Sub	168	C=1.000	G=0.000, T=0.000
East Asian	Sub	112	C=1.000	G=0.000, T=0.000
Other Asian	Sub	56	C=1.00	G=0.00, T=0.00
Latin American 1	Sub	500	C=1.000	G=0.000, T=0.000
Latin American 2	Sub	628	C=1.000	G=0.000, T=0.000
South Asian	Sub	98	C=1.00	G=0.00, T=0.00
Other	Sub	8298	C=0.9999	G=0.0001, T=0.0000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.999977	T=0.000023
Allele Frequency Aggregator	Total	Global	44420	C=0.99993	G=0.00005, T=0.00002
Allele Frequency Aggregator	European	Sub	32650	C=0.99994	G=0.00003, T=0.00003
Allele Frequency Aggregator	Other	Sub	6864	C=0.9999	G=0.0001, T=0.0000
Allele Frequency Aggregator	African	Sub	3512	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	628	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	500	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	168	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9997	G=0.0003
1000Genomes_30x	African	Sub	1786	C=1.0000	G=0.0000
1000Genomes_30x	Europe	Sub	1266	C=1.0000	G=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	G=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9983	G=0.0017
1000Genomes_30x	American	Sub	980	C=1.000	G=0.000
1000Genomes	Global	Study-wide	5008	C=0.9998	G=0.0002
1000Genomes	African	Sub	1322	C=1.0000	G=0.0000
1000Genomes	East Asian	Sub	1008	C=0.9990	G=0.0010
1000Genomes	Europe	Sub	1006	C=1.0000	G=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	G=0.000
1000Genomes	American	Sub	694	C=1.000	G=0.000

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 3	NC_000003.12:g.37335152C>G
GRCh38.p14 chr 3	NC_000003.12:g.37335152C>T
GRCh37.p13 chr 3	NC_000003.11:g.37376643C>G
GRCh37.p13 chr 3	NC_000003.11:g.37376643C>T
GOLGA4 RefSeqGene	NG_047053.1:g.96962C>G
GOLGA4 RefSeqGene	NG_047053.1:g.96962C>T

Gene: GOLGA4, golgin A4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GOLGA4 transcript variant 2	NM_002078.5:c.6292C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform 2	NP_002069.2:p.Pro2098Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant 2	NM_002078.5:c.6292C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform 2	NP_002069.2:p.Pro2098Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant 1	NM_001172713.2:c.6358C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform 1	NP_001166184.1:p.Pro2120A… NP_001166184.1:p.Pro2120Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant 1	NM_001172713.2:c.6358C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform 1	NP_001166184.1:p.Pro2120S… NP_001166184.1:p.Pro2120Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X1	XM_005265069.4:c.6457C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X1	XP_005265126.1:p.Pro2153A… XP_005265126.1:p.Pro2153Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X1	XM_005265069.4:c.6457C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X1	XP_005265126.1:p.Pro2153S… XP_005265126.1:p.Pro2153Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X2	XM_005265070.4:c.6457C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X2	XP_005265127.1:p.Pro2153A… XP_005265127.1:p.Pro2153Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X2	XM_005265070.4:c.6457C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X2	XP_005265127.1:p.Pro2153S… XP_005265127.1:p.Pro2153Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X3	XM_005265071.4:c.6457C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X3	XP_005265128.1:p.Pro2153A… XP_005265128.1:p.Pro2153Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X3	XM_005265071.4:c.6457C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X3	XP_005265128.1:p.Pro2153S… XP_005265128.1:p.Pro2153Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X4	XM_017006184.2:c.6457C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X4	XP_016861673.1:p.Pro2153A… XP_016861673.1:p.Pro2153Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X4	XM_017006184.2:c.6457C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X4	XP_016861673.1:p.Pro2153S… XP_016861673.1:p.Pro2153Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X5	XM_005265072.4:c.6409C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X5	XP_005265129.1:p.Pro2137A… XP_005265129.1:p.Pro2137Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X5	XM_005265072.4:c.6409C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X5	XP_005265129.1:p.Pro2137S… XP_005265129.1:p.Pro2137Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X6	XM_005265073.2:c.6358C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X6	XP_005265130.1:p.Pro2120A… XP_005265130.1:p.Pro2120Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X6	XM_005265073.2:c.6358C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X6	XP_005265130.1:p.Pro2120S… XP_005265130.1:p.Pro2120Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X7	XM_047447980.1:c.6355C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X7	XP_047303936.1:p.Pro2119A… XP_047303936.1:p.Pro2119Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X7	XM_047447980.1:c.6355C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X7	XP_047303936.1:p.Pro2119S… XP_047303936.1:p.Pro2119Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X8	XM_047447981.1:c.6355C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X7	XP_047303937.1:p.Pro2119A… XP_047303937.1:p.Pro2119Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X8	XM_047447981.1:c.6355C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X7	XP_047303937.1:p.Pro2119S… XP_047303937.1:p.Pro2119Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X9	XM_047447982.1:c.6358C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X8	XP_047303938.1:p.Pro2120A… XP_047303938.1:p.Pro2120Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X9	XM_047447982.1:c.6358C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X8	XP_047303938.1:p.Pro2120S… XP_047303938.1:p.Pro2120Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X9	XM_006713110.3:c.6352C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X8	XP_006713173.1:p.Pro2118A… XP_006713173.1:p.Pro2118Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X9	XM_006713110.3:c.6352C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X8	XP_006713173.1:p.Pro2118S… XP_006713173.1:p.Pro2118Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X10	XM_005265074.2:c.6358C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X9	XP_005265131.1:p.Pro2120A… XP_005265131.1:p.Pro2120Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X10	XM_005265074.2:c.6358C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X9	XP_005265131.1:p.Pro2120S… XP_005265131.1:p.Pro2120Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X11	XM_017006187.2:c.6310C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X10	XP_016861676.1:p.Pro2104A… XP_016861676.1:p.Pro2104Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X11	XM_017006187.2:c.6310C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X10	XP_016861676.1:p.Pro2104S… XP_016861676.1:p.Pro2104Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X12	XM_047447983.1:c.6310C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X11	XP_047303939.1:p.Pro2104A… XP_047303939.1:p.Pro2104Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X12	XM_047447983.1:c.6310C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X11	XP_047303939.1:p.Pro2104S… XP_047303939.1:p.Pro2104Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X13	XM_047447984.1:c.6292C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X12	XP_047303940.1:p.Pro2098A… XP_047303940.1:p.Pro2098Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X13	XM_047447984.1:c.6292C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X12	XP_047303940.1:p.Pro2098S… XP_047303940.1:p.Pro2098Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X14	XM_047447985.1:c.6253C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X13	XP_047303941.1:p.Pro2085A… XP_047303941.1:p.Pro2085Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X14	XM_047447985.1:c.6253C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X13	XP_047303941.1:p.Pro2085S… XP_047303941.1:p.Pro2085Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X15	XM_047447986.1:c.6253C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X14	XP_047303942.1:p.Pro2085A… XP_047303942.1:p.Pro2085Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X15	XM_047447986.1:c.6253C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X14	XP_047303942.1:p.Pro2085S… XP_047303942.1:p.Pro2085Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X16	XM_005265075.2:c.6244C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X15	XP_005265132.1:p.Pro2082A… XP_005265132.1:p.Pro2082Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X16	XM_005265075.2:c.6244C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X15	XP_005265132.1:p.Pro2082S… XP_005265132.1:p.Pro2082Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X17	XM_017006188.2:c.6187C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X16	XP_016861677.1:p.Pro2063A… XP_016861677.1:p.Pro2063Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X17	XM_017006188.2:c.6187C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X16	XP_016861677.1:p.Pro2063S… XP_016861677.1:p.Pro2063Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X18	XM_024453457.2:c.5935C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X17	XP_024309225.1:p.Pro1979A… XP_024309225.1:p.Pro1979Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X18	XM_024453457.2:c.5935C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X17	XP_024309225.1:p.Pro1979S… XP_024309225.1:p.Pro1979Ser	P (Pro) > S (Ser)	Missense Variant
GOLGA4 transcript variant X19	XM_011533598.4:c.4981C>G	P [CCT] > A [GCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X18	XP_011531900.1:p.Pro1661A… XP_011531900.1:p.Pro1661Ala	P (Pro) > A (Ala)	Missense Variant
GOLGA4 transcript variant X19	XM_011533598.4:c.4981C>T	P [CCT] > S [TCT]	Coding Sequence Variant
golgin subfamily A member 4 isoform X18	XP_011531900.1:p.Pro1661S… XP_011531900.1:p.Pro1661Ser	P (Pro) > S (Ser)	Missense Variant

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

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	C=	G	T
GRCh38.p14 chr 3	NC_000003.12:g.37335152=	NC_000003.12:g.37335152C>G	NC_000003.12:g.37335152C>T
GRCh37.p13 chr 3	NC_000003.11:g.37376643=	NC_000003.11:g.37376643C>G	NC_000003.11:g.37376643C>T
GOLGA4 RefSeqGene	NG_047053.1:g.96962=	NG_047053.1:g.96962C>G	NG_047053.1:g.96962C>T
GOLGA4 transcript variant 2	NM_002078.5:c.6292=	NM_002078.5:c.6292C>G	NM_002078.5:c.6292C>T
GOLGA4 transcript variant 2	NM_002078.4:c.6292=	NM_002078.4:c.6292C>G	NM_002078.4:c.6292C>T
GOLGA4 transcript variant 1	NM_001172713.2:c.6358=	NM_001172713.2:c.6358C>G	NM_001172713.2:c.6358C>T
GOLGA4 transcript variant 1	NM_001172713.1:c.6358=	NM_001172713.1:c.6358C>G	NM_001172713.1:c.6358C>T
GOLGA4 transcript variant 3	NM_001410721.1:c.6358=	NM_001410721.1:c.6358C>G	NM_001410721.1:c.6358C>T
GOLGA4 transcript variant X1	XM_005265069.4:c.6457=	XM_005265069.4:c.6457C>G	XM_005265069.4:c.6457C>T
GOLGA4 transcript variant X1	XM_005265069.3:c.6457=	XM_005265069.3:c.6457C>G	XM_005265069.3:c.6457C>T
GOLGA4 transcript variant X1	XM_005265069.2:c.6457=	XM_005265069.2:c.6457C>G	XM_005265069.2:c.6457C>T
GOLGA4 transcript variant X1	XM_005265069.1:c.6457=	XM_005265069.1:c.6457C>G	XM_005265069.1:c.6457C>T
GOLGA4 transcript variant X3	XM_005265071.4:c.6457=	XM_005265071.4:c.6457C>G	XM_005265071.4:c.6457C>T
GOLGA4 transcript variant X3	XM_005265071.3:c.6457=	XM_005265071.3:c.6457C>G	XM_005265071.3:c.6457C>T
GOLGA4 transcript variant X3	XM_005265071.2:c.6457=	XM_005265071.2:c.6457C>G	XM_005265071.2:c.6457C>T
GOLGA4 transcript variant X3	XM_005265071.1:c.6457=	XM_005265071.1:c.6457C>G	XM_005265071.1:c.6457C>T
GOLGA4 transcript variant X5	XM_005265072.4:c.6409=	XM_005265072.4:c.6409C>G	XM_005265072.4:c.6409C>T
GOLGA4 transcript variant X5	XM_005265072.3:c.6409=	XM_005265072.3:c.6409C>G	XM_005265072.3:c.6409C>T
GOLGA4 transcript variant X4	XM_005265072.2:c.6409=	XM_005265072.2:c.6409C>G	XM_005265072.2:c.6409C>T
GOLGA4 transcript variant X4	XM_005265072.1:c.6409=	XM_005265072.1:c.6409C>G	XM_005265072.1:c.6409C>T
GOLGA4 transcript variant X2	XM_005265070.4:c.6457=	XM_005265070.4:c.6457C>G	XM_005265070.4:c.6457C>T
GOLGA4 transcript variant X2	XM_005265070.3:c.6457=	XM_005265070.3:c.6457C>G	XM_005265070.3:c.6457C>T
GOLGA4 transcript variant X2	XM_005265070.2:c.6457=	XM_005265070.2:c.6457C>G	XM_005265070.2:c.6457C>T
GOLGA4 transcript variant X2	XM_005265070.1:c.6457=	XM_005265070.1:c.6457C>G	XM_005265070.1:c.6457C>T
GOLGA4 transcript variant X19	XM_011533598.4:c.4981=	XM_011533598.4:c.4981C>G	XM_011533598.4:c.4981C>T
GOLGA4 transcript variant X17	XM_011533598.3:c.4981=	XM_011533598.3:c.4981C>G	XM_011533598.3:c.4981C>T
GOLGA4 transcript variant X14	XM_011533598.2:c.4981=	XM_011533598.2:c.4981C>G	XM_011533598.2:c.4981C>T
GOLGA4 transcript variant X10	XM_011533598.1:c.4981=	XM_011533598.1:c.4981C>G	XM_011533598.1:c.4981C>T
GOLGA4 transcript variant X9	XM_006713110.3:c.6352=	XM_006713110.3:c.6352C>G	XM_006713110.3:c.6352C>T
GOLGA4 transcript variant X9	XM_006713110.2:c.6352=	XM_006713110.2:c.6352C>G	XM_006713110.2:c.6352C>T
GOLGA4 transcript variant X8	XM_006713110.1:c.6352=	XM_006713110.1:c.6352C>G	XM_006713110.1:c.6352C>T
GOLGA4 transcript variant X18	XM_024453457.2:c.5935=	XM_024453457.2:c.5935C>G	XM_024453457.2:c.5935C>T
GOLGA4 transcript variant X15	XM_024453457.1:c.5935=	XM_024453457.1:c.5935C>G	XM_024453457.1:c.5935C>T
GOLGA4 transcript variant X4	XM_017006184.2:c.6457=	XM_017006184.2:c.6457C>G	XM_017006184.2:c.6457C>T
GOLGA4 transcript variant X4	XM_017006184.1:c.6457=	XM_017006184.1:c.6457C>G	XM_017006184.1:c.6457C>T
GOLGA4 transcript variant X6	XM_005265073.2:c.6358=	XM_005265073.2:c.6358C>G	XM_005265073.2:c.6358C>T
GOLGA4 transcript variant X6	XM_005265073.1:c.6358=	XM_005265073.1:c.6358C>G	XM_005265073.1:c.6358C>T
GOLGA4 transcript variant X10	XM_005265074.2:c.6358=	XM_005265074.2:c.6358C>G	XM_005265074.2:c.6358C>T
GOLGA4 transcript variant X10	XM_005265074.1:c.6358=	XM_005265074.1:c.6358C>G	XM_005265074.1:c.6358C>T
GOLGA4 transcript variant X11	XM_017006187.2:c.6310=	XM_017006187.2:c.6310C>G	XM_017006187.2:c.6310C>T
GOLGA4 transcript variant X11	XM_017006187.1:c.6310=	XM_017006187.1:c.6310C>G	XM_017006187.1:c.6310C>T
GOLGA4 transcript variant X16	XM_005265075.2:c.6244=	XM_005265075.2:c.6244C>G	XM_005265075.2:c.6244C>T
GOLGA4 transcript variant X12	XM_005265075.1:c.6244=	XM_005265075.1:c.6244C>G	XM_005265075.1:c.6244C>T
GOLGA4 transcript variant X17	XM_017006188.2:c.6187=	XM_017006188.2:c.6187C>G	XM_017006188.2:c.6187C>T
GOLGA4 transcript variant X13	XM_017006188.1:c.6187=	XM_017006188.1:c.6187C>G	XM_017006188.1:c.6187C>T
GOLGA4 transcript variant X8	XM_047447981.1:c.6355=	XM_047447981.1:c.6355C>G	XM_047447981.1:c.6355C>T
GOLGA4 transcript variant X7	XM_047447980.1:c.6355=	XM_047447980.1:c.6355C>G	XM_047447980.1:c.6355C>T
GOLGA4 transcript variant X9	XM_047447982.1:c.6358=	XM_047447982.1:c.6358C>G	XM_047447982.1:c.6358C>T
GOLGA4 transcript variant X14	XM_047447985.1:c.6253=	XM_047447985.1:c.6253C>G	XM_047447985.1:c.6253C>T
GOLGA4 transcript variant X12	XM_047447983.1:c.6310=	XM_047447983.1:c.6310C>G	XM_047447983.1:c.6310C>T
GOLGA4 transcript variant X13	XM_047447984.1:c.6292=	XM_047447984.1:c.6292C>G	XM_047447984.1:c.6292C>T
GOLGA4 transcript variant X15	XM_047447986.1:c.6253=	XM_047447986.1:c.6253C>G	XM_047447986.1:c.6253C>T
golgin subfamily A member 4 isoform 2	NP_002069.2:p.Pro2098=	NP_002069.2:p.Pro2098Ala	NP_002069.2:p.Pro2098Ser
golgin subfamily A member 4 isoform 1	NP_001166184.1:p.Pro2120=	NP_001166184.1:p.Pro2120Ala	NP_001166184.1:p.Pro2120Ser
golgin subfamily A member 4 isoform X1	XP_005265126.1:p.Pro2153=	XP_005265126.1:p.Pro2153Ala	XP_005265126.1:p.Pro2153Ser
golgin subfamily A member 4 isoform X3	XP_005265128.1:p.Pro2153=	XP_005265128.1:p.Pro2153Ala	XP_005265128.1:p.Pro2153Ser
golgin subfamily A member 4 isoform X5	XP_005265129.1:p.Pro2137=	XP_005265129.1:p.Pro2137Ala	XP_005265129.1:p.Pro2137Ser
golgin subfamily A member 4 isoform X2	XP_005265127.1:p.Pro2153=	XP_005265127.1:p.Pro2153Ala	XP_005265127.1:p.Pro2153Ser
golgin subfamily A member 4 isoform X18	XP_011531900.1:p.Pro1661=	XP_011531900.1:p.Pro1661Ala	XP_011531900.1:p.Pro1661Ser
golgin subfamily A member 4 isoform X8	XP_006713173.1:p.Pro2118=	XP_006713173.1:p.Pro2118Ala	XP_006713173.1:p.Pro2118Ser
golgin subfamily A member 4 isoform X17	XP_024309225.1:p.Pro1979=	XP_024309225.1:p.Pro1979Ala	XP_024309225.1:p.Pro1979Ser
golgin subfamily A member 4 isoform X4	XP_016861673.1:p.Pro2153=	XP_016861673.1:p.Pro2153Ala	XP_016861673.1:p.Pro2153Ser
golgin subfamily A member 4 isoform X6	XP_005265130.1:p.Pro2120=	XP_005265130.1:p.Pro2120Ala	XP_005265130.1:p.Pro2120Ser
golgin subfamily A member 4 isoform X9	XP_005265131.1:p.Pro2120=	XP_005265131.1:p.Pro2120Ala	XP_005265131.1:p.Pro2120Ser
golgin subfamily A member 4 isoform X10	XP_016861676.1:p.Pro2104=	XP_016861676.1:p.Pro2104Ala	XP_016861676.1:p.Pro2104Ser
golgin subfamily A member 4 isoform X15	XP_005265132.1:p.Pro2082=	XP_005265132.1:p.Pro2082Ala	XP_005265132.1:p.Pro2082Ser
golgin subfamily A member 4 isoform X16	XP_016861677.1:p.Pro2063=	XP_016861677.1:p.Pro2063Ala	XP_016861677.1:p.Pro2063Ser
golgin subfamily A member 4 isoform X7	XP_047303937.1:p.Pro2119=	XP_047303937.1:p.Pro2119Ala	XP_047303937.1:p.Pro2119Ser
golgin subfamily A member 4 isoform X7	XP_047303936.1:p.Pro2119=	XP_047303936.1:p.Pro2119Ala	XP_047303936.1:p.Pro2119Ser
golgin subfamily A member 4 isoform X8	XP_047303938.1:p.Pro2120=	XP_047303938.1:p.Pro2120Ala	XP_047303938.1:p.Pro2120Ser
golgin subfamily A member 4 isoform X13	XP_047303941.1:p.Pro2085=	XP_047303941.1:p.Pro2085Ala	XP_047303941.1:p.Pro2085Ser
golgin subfamily A member 4 isoform X11	XP_047303939.1:p.Pro2104=	XP_047303939.1:p.Pro2104Ala	XP_047303939.1:p.Pro2104Ser
golgin subfamily A member 4 isoform X12	XP_047303940.1:p.Pro2098=	XP_047303940.1:p.Pro2098Ala	XP_047303940.1:p.Pro2098Ser
golgin subfamily A member 4 isoform X14	XP_047303942.1:p.Pro2085=	XP_047303942.1:p.Pro2085Ala	XP_047303942.1:p.Pro2085Ser

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#.

13 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss488750706	May 04, 2012 (137)
2	1000GENOMES	ss1303576624	Aug 21, 2014 (142)
3	EVA_EXAC	ss1686923455	Apr 01, 2015 (144)
4	EVA_EXAC	ss1686923456	Apr 01, 2015 (144)
5	GNOMAD	ss2733625343	Nov 08, 2017 (151)
6	GNOMAD	ss2746970924	Nov 08, 2017 (151)
7	GNOMAD	ss2791718647	Nov 08, 2017 (151)
8	EVA	ss3759901694	Jul 13, 2019 (153)
9	TOPMED	ss4560897630	Apr 27, 2021 (155)
10	1000G_HIGH_COVERAGE	ss5253719382	Oct 17, 2022 (156)
11	EVA	ss5339122993	Oct 17, 2022 (156)
12	1000G_HIGH_COVERAGE	ss5531896186	Oct 17, 2022 (156)
13	EVA	ss5868406497	Oct 17, 2022 (156)
14	1000Genomes	NC_000003.11 - 37376643	Oct 12, 2018 (152)
15	1000Genomes_30x	NC_000003.12 - 37335152	Oct 17, 2022 (156)
16	ExAC Submission ignored due to conflicting rows: Row 6841893 (NC_000003.11:37376642:C:C 73300/73300, NC_000003.11:37376642:C:G 0/73300) Row 6841894 (NC_000003.11:37376642:C:C 73299/73300, NC_000003.11:37376642:C:T 1/73300)	-	Oct 12, 2018 (152)
17	ExAC Submission ignored due to conflicting rows: Row 6841893 (NC_000003.11:37376642:C:C 73300/73300, NC_000003.11:37376642:C:G 0/73300) Row 6841894 (NC_000003.11:37376642:C:C 73299/73300, NC_000003.11:37376642:C:T 1/73300)	-	Oct 12, 2018 (152)
18	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104624480 (NC_000003.12:37335151:C:G 3/140050) Row 104624481 (NC_000003.12:37335151:C:T 3/140050)	-	Apr 27, 2021 (155)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104624480 (NC_000003.12:37335151:C:G 3/140050) Row 104624481 (NC_000003.12:37335151:C:T 3/140050)	-	Apr 27, 2021 (155)
20	gnomAD - Exomes Submission ignored due to conflicting rows: Row 2699426 (NC_000003.11:37376642:C:C 237185/237190, NC_000003.11:37376642:C:G 5/237190) Row 2699427 (NC_000003.11:37376642:C:C 237188/237190, NC_000003.11:37376642:C:T 2/237190)	-	Jul 13, 2019 (153)
21	gnomAD - Exomes Submission ignored due to conflicting rows: Row 2699426 (NC_000003.11:37376642:C:C 237185/237190, NC_000003.11:37376642:C:G 5/237190) Row 2699427 (NC_000003.11:37376642:C:C 237188/237190, NC_000003.11:37376642:C:T 2/237190)	-	Jul 13, 2019 (153)
22	TopMed	NC_000003.12 - 37335152	Apr 27, 2021 (155)
23	ALFA	NC_000003.12 - 37335152	Apr 27, 2021 (155)

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
14749786, ss488750706, ss1303576624, ss1686923456, ss2733625343, ss2746970924, ss2791718647, ss3759901694, ss5339122993	NC_000003.11:37376642:C:G	NC_000003.12:37335151:C:G	(self)
19422121, 14782207367, ss5253719382, ss5531896186, ss5868406497	NC_000003.12:37335151:C:G	NC_000003.12:37335151:C:G	(self)
ss1686923455, ss2733625343, ss2746970924, ss2791718647	NC_000003.11:37376642:C:T	NC_000003.12:37335151:C:T	(self)
398275185, 14782207367, ss4560897630	NC_000003.12:37335151:C:T	NC_000003.12:37335151:C:T	(self)

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

No publications for rs200502673

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs200502673