Reference SNP(refSNP) Cluster Report: rs26502

Search for SNP on NCBI Reference Assembly

Search Entrez for

BUILD 129

Have a question about dbSNP? Try searching the SNP FAQ Archive!

Reference SNP(refSNP) Cluster Report: rs26502

refSNP ID: rs26502
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	76/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	T
Clinical Association:	unknown

HGVS Names
NM_001042440.1:c.1810-967C>T
NM_001042441.1:c.1876-967C>T
NM_001042442.1:c.1867-967C>T
NM_001042443.1:c.1684-967C>T
NM_001042444.1:c.1561-967C>T
NM_001042445.1:c.1579-967C>T
NM_001042446.1:c.1522-967C>T
NM_001750.5:c.1933-967C>T
NM_016442.3:c.2819-1026G>A
NM_173060.2:c.1618-967C>T
NM_173061.2:c.853-970C>T
NM_173063.1:c.1828-967C>T
NT_023148.12:g.4413830C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss79972941 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs26502 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss30144	KWOK\|OVLP-10166		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	04/28/00	10/10/03	76	Genomic			99 %
ss30249	KWOK\|OVLP-11175		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	04/28/00	10/10/03	76	Genomic			99 %
ss31789	KWOK\|OVLP-19350		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	04/28/00	10/10/03	76	Genomic			99 %
ss31808	KWOK\|OVLP-19437		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	04/28/00	10/10/03	76	Genomic			99 %
ss37696	KWOK\|OVLP-44139		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	04/28/00	10/10/03	76	Genomic			99 %
ss315154	KWOK\|OVLP-000621-4029		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	06/30/00	10/10/03	87	Genomic			99 %
ss315787	KWOK\|OVLP-000621-5627		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	06/30/00	10/10/03	87	Genomic			99 %
ss317782	KWOK\|OVLP-000621-12402		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	06/30/00	10/10/03	87	Genomic			99 %
ss321255	KWOK\|OVLP-000621-23387		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	06/30/00	10/10/03	87	Genomic			99 %
ss323507	KWOK\|OVLP-000621-30904		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	06/30/00	10/10/03	87	Genomic			99 %
ss336326	KWOK\|OVLP-000621-74438		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	06/30/00	10/10/03	87	Genomic			99 %
ss521672	SC_JCM\|AC008452.4_57814		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	07/12/00	10/10/03	87	Genomic			unknown
ss1070983	KWOK\|OVLP-000804-12187		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			99 %
ss1074476	KWOK\|OVLP-000804-31385		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			99 %
ss1186558	KWOK\|OVLP-000804-614984		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			99 %
ss1187070	KWOK\|OVLP-000804-617051		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			99 %
ss1188219	KWOK\|OVLP-000804-622368		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			99 %
ss1192818	KWOK\|OVLP-000804-638321		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			99 %
ss1198721	KWOK\|OVLP-000804-6009		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	09/02/00	10/10/03	87	Genomic			97 %
ss1200223	KWOK\|OVLP-000804-19148		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	09/02/00	10/10/03	87	Genomic			97 %
ss1200689	KWOK\|OVLP-000804-23243		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			97 %
ss1202543	KWOK\|OVLP-000804-38882		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	09/02/00	10/10/03	87	Genomic			97 %
ss1259904	KWOK\|OVLP-000804-619183		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	09/02/00	10/10/03	87	Genomic			97 %
ss1268286	KWOK\|OVLP-000804-30189		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	09/02/00	10/10/03	87	Genomic			94 %
ss1769409	KWOK\|OVLP-000925-187188		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	10/05/00	10/10/03	87	Genomic			99 %
ss1770190	KWOK\|OVLP-000925-196141		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	10/05/00	10/10/03	87	Genomic			99 %
ss1770598	KWOK\|OVLP-000925-201670		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	10/05/00	10/10/03	87	Genomic			99 %
ss1770836	KWOK\|OVLP-000925-208912		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	10/05/00	10/10/03	87	Genomic			99 %
ss1823889	KWOK\|OVLP-000925-198462		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	10/05/00	10/10/03	87	Genomic			97 %
ss1824378	KWOK\|OVLP-000925-209977		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	10/05/00	10/10/03	87	Genomic			97 %
ss1824582	KWOK\|OVLP-000925-213480		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	10/05/00	10/10/03	87	Genomic			97 %
ss1824814	KWOK\|OVLP-000925-221539		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	10/05/00	10/10/03	87	Genomic			97 %
ss1850995	KWOK\|OVLP-000925-222502		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	10/06/00	10/10/03	87	Genomic			94 %
ss2123196	TSC-CSHL\|TSC0472133		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	10/19/00	10/25/06	88	Genomic			95 %
ss4963021	YUSUKE\|IMS-JST132757		rev/T	A/G	aagttgctgagaaaagtaaatgattgaaaa	gcatttaaaacaatactagttgtatgttag	08/07/02	10/10/03	108	Genomic			unknown
ss6091103	SC_JCM\|NT_023148.8_1616515		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	01/10/03	10/10/03	111	Genomic			unknown
ss11751410	WI_SSAHASNP\|chr5.NT_023148.11_4413829		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	07/04/03	10/10/03	116	Genomic			unknown
ss14655793	WI_SSAHASNP\|chr5.NT_023148.12_4413830		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	11/05/03	11/22/03	119	Genomic			unknown
ss42417407	ABI\|hCV794744		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	07/18/05	07/18/05	126	Genomic			unknown
ss79972941	HGSV\|Cor18507_SNV_20070510.chr5_96125714		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	11/23/07	11/24/07	130	Genomic			unknown
ss85447427	HGSV\|Cor19129_SNV_20070510.chr5_96125714		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	12/06/07	12/09/07	130	Genomic			unknown
ss93177791	BCMHGSC_JDW\|JWB-2009757		fwd/B	C/T	ctaacatacaactagtattgttttaaatgc	ttttcaatcatttacttttctcagcaactt	02/26/08	03/04/08	129	Genomic			unknown

Fasta sequence (Legend)

>gnl|dbSNP|rs26502|allelePos=448|totalLen=781|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130

 ACTCCAACAG GAAAACTGCT TCAAAGAAAA TAGAAGATCA TGGATGTGAC TAAGCATGAC
 AGGGAAAAGC TTTATCAGTC CCAAGACCTG GGTTCTATTC ACTTTTTAAC AATTTGTTTT
 CAAGCAACTG ACTTAGCTTC CCTGAGCTTT TTACCTCAAA AAAAAAAAGC CTGCTTAGTT
 CACTGAGAAC CATTGTGGGC ATCAAATAAA ACTGGATAGT GTATGTGAAA ACATTTTGAA
 AATCAACTGG AAAGTTCTAT ACAGTATTGG ACAGAGTTCA GCATGGTGTC TTATACAATG
 TAGATATTAA ACACATTTTA ATTGAATTCA TTTAGAGGTG GAATTTTGAA TGCAATGTGT
 TGAAAAATAT GGATTTTGCT ATAATAATAC TAATAATAAT TTACCATTTG TTGGGTCCTA
 ACATACAACT AGTATTGTTT TAAATGC
 Y
 TTTTCAATCA TTTACTTTTC TCAGCAACTT AGGAGTATAA GTACTACTAT TATTCACATT
 TCACGGCCAA GGAAACTGAA GCTGAAAGGG GTTAAATAAG CTGCCTGAAT CATACAGTAA
 ATAAATGTTA GAGGAAATAA GCTATCTTAG TTACAGTGAT ATTGTTGTCC ATAATTTTTT
 TCCTCTAGAA TACCAGCTCC CATTTCTGCA ATTTCACTTC CATGAGCTTC CTGAAGATGA
 AAAGAGAGGT TTCCCCACCA GTTCAGAAAT TCTCTGAAGT CTTTCAGGGC ACTCATCACC
 AGTGTGGCAG ACAAGCCCCT TCCACTCTCC TGA

GeneView via analysis of contig annotation: ERAP1 endoplasmic reticulum aminopeptidase 1

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: CAST calpastatin

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_023148->NM_016442

HuRef

NW_001838952->NM_016442

Celera

NW_922729->NM_016442

reference

NT_023148->NM_001042440

reference

NT_023148->NM_001042441

reference

NT_023148->NM_001042442

reference

NT_023148->NM_001042443

reference

NT_023148->NM_001042444

reference

NT_023148->NM_001042445

reference

NT_023148->NM_001042446

reference

NT_023148->NM_001750

reference

NT_023148->NM_173060

reference

NT_023148->NM_173061

reference

NT_023148->NM_173063

HuRef

NW_001838952->NM_001042440

HuRef

NW_001838952->NM_001042441

HuRef

NW_001838952->NM_001042442

HuRef

NW_001838952->NM_001042443

HuRef

NW_001838952->NM_001042444

HuRef

NW_001838952->NM_001042445

HuRef

NW_001838952->NM_001042446

HuRef

NW_001838952->NM_001750

HuRef

NW_001838952->NM_173060

HuRef

NW_001838952->NM_173061

HuRef

NW_001838952->NM_173063

Celera

NW_922729->NM_001042440

Celera

NW_922729->NM_001042441

Celera

NW_922729->NM_001042442

Celera

NW_922729->NM_001042443

Celera

NW_922729->NM_001042444

Celera

NW_922729->NM_001042445

Celera

NW_922729->NM_001042446

Celera

NW_922729->NM_001750

Celera

NW_922729->NM_173060

Celera

NW_922729->NM_173061

Celera

NW_922729->NM_173063

"

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


reference	NT_023148->NM_016442->NP_057526	4413830	reverse		intron

HuRef	NW_001838952->NM_016442->NP_057526	42686495	forward		intron

Celera	NW_922729->NM_016442->NP_057526	25384225	reverse		intron

reference	NT_023148->NM_001042440->NP_001035905	4413830	forward		intron

reference	NT_023148->NM_001042441->NP_001035906	4413830	forward		intron

reference	NT_023148->NM_001042442->NP_001035907	4413830	forward		intron

reference	NT_023148->NM_001042443->NP_001035908	4413830	forward		intron

reference	NT_023148->NM_001042444->NP_001035909	4413830	forward		intron

reference	NT_023148->NM_001042445->NP_001035910	4413830	forward		intron

reference	NT_023148->NM_001042446->NP_001035911	4413830	forward		intron

reference	NT_023148->NM_001750->NP_001741	4413830	forward		intron

reference	NT_023148->NM_173060->NP_775083	4413830	forward		intron

reference	NT_023148->NM_173061->NP_775084	4413830	forward		intron

reference	NT_023148->NM_173063->NP_775086	4413830	forward		intron

HuRef	NW_001838952->NM_001042440->NP_001035905	42686495	reverse		intron

HuRef	NW_001838952->NM_001042441->NP_001035906	42686495	reverse		intron

HuRef	NW_001838952->NM_001042442->NP_001035907	42686495	reverse		intron

HuRef	NW_001838952->NM_001042443->NP_001035908	42686495	reverse		intron

HuRef	NW_001838952->NM_001042444->NP_001035909	42686495	reverse		intron

HuRef	NW_001838952->NM_001042445->NP_001035910	42686495	reverse		intron

HuRef	NW_001838952->NM_001042446->NP_001035911	42686495	reverse		intron

HuRef	NW_001838952->NM_001750->NP_001741	42686495	reverse		intron

HuRef	NW_001838952->NM_173060->NP_775083	42686495	reverse		intron

HuRef	NW_001838952->NM_173061->NP_775084	42686495	reverse		intron

HuRef	NW_001838952->NM_173063->NP_775086	42686495	reverse		intron

Celera	NW_922729->NM_001042440->NP_001035905	25384225	forward		intron

Celera	NW_922729->NM_001042441->NP_001035906	25384225	forward		intron

Celera	NW_922729->NM_001042442->NP_001035907	25384225	forward		intron

Celera	NW_922729->NM_001042443->NP_001035908	25384225	forward		intron

Celera	NW_922729->NM_001042444->NP_001035909	25384225	forward		intron

Celera	NW_922729->NM_001042445->NP_001035910	25384225	forward		intron

Celera	NW_922729->NM_001042446->NP_001035911	25384225	forward		intron

Celera	NW_922729->NM_001750->NP_001741	25384225	forward		intron

Celera	NW_922729->NM_173060->NP_775083	25384225	forward		intron

Celera	NW_922729->NM_173061->NP_775084	25384225	forward		intron

Celera	NW_922729->NM_173063->NP_775086	25384225	forward		intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs26502 maps exactly once on NCBI human chromosome 5

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
5	NW_001838952.2	42686495	91290213	minus	G	alt_assembly_8	HuRef	HuRef	view	262
5	NW_922729.1	25384225	91984381	plus	C	alt_assembly_1	Celera	Celera	view	262
5	NT_023148.12	4413830	96125714	plus	C	ref_assembly	reference	reference	view	262

NCBI Resource Links

Submitter-Referenced
GenBank
NT_023148.8 AC008906.4 AC008963.5 AC009073.8 AC020923.5 AC026435 AC026435.2

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC008906.5 AC009073.8 AC009126.2 NC_000005.8	AC008452.5 AC008508.5 AC008963.5 AC026435.2

UniGene Cluster ID
436186

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	T
ss2123196	HapMap-CEU	European	110	IG	0.309	0.455	0.236	0.527	0.536	0.464

	HapMap-HCB	Asian	88	IG	0.773	0.205	0.023	0.752	0.875	0.125

	HapMap-JPT	Asian	90	IG	0.689	0.289	0.022	1.000	0.833	0.167

	HapMap-YRI	Sub-Saharan African	112	IG	0.214	0.607	0.179	0.150	0.518	0.482

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.440+/-0.162	270	210	0	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

UNKNOWN

UNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .