Reference SNP(refSNP) Cluster Report: rs1138454

Reference SNP(refSNP) Cluster Report: rs1138454

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_001134380.1:c.2086A>G
NM_001134381.1:c.2152A>G
NM_014744.1:c.2086A>G
NM_014744.2:c.2086A>G
NP_001127852.1:p.Ile696Val
NP_001127853.1:p.Ile718Val
NP_055559.1:p.Ile696Val
NT_022517.17:g.17148271T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss76897107 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1138454 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss1546089	LEE\|910543	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggcctcttcagaaacgccagggt	09/13/00	10/10/03	86	cDNA	unknown
ss2424102	HGBASE\|SNP000011454	fwd/T	A/G	ccagagcgttcaaatgtcaggggcc	ttaaacaggcctcttcagaaacgcc	11/07/00	10/10/03	102	cDNA	unknown
ss3651467	SC_JCM\|AC018454.8_162038	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	09/24/01	10/10/03	102	Genomic	unknown
ss16988313	CSHL-HAPMAP\|CSHL-HuAA-200402.chr3.NT_022517.16_17148271	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	02/17/04	05/16/04	120	Genomic	unknown
ss19550586	CSHL-HAPMAP\|CSHL-HuDD-200402.chr3.NT_022517.16_17148271	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	02/20/04	03/04/04	120	Genomic	unknown
ss22010911	SSAHASNP\|WGSA-200403-chr3.chr3.NT_022517.16_17148271	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	03/20/04	03/20/04	121	Genomic	unknown
ss24619657	PERLEGEN\|afd2339339	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	08/10/04	09/13/04	123	Genomic	unknown
ss44428135	ABI\|hCV1307000	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	07/18/05	11/03/06	126	Genomic	unknown
ss48423633	APPLERA_GI\|hCV1307000	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	09/28/05	11/03/06	126	Genomic	unknown
ss65725337	ILLUMINA\|Human1-rs1138454	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	10/10/06	10/10/06	127	Genomic	unknown
ss66700259	ILLUMINA\|HumanHap300v1.1_rs1138454	fwd/B	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	11/09/06	11/09/06	127	Genomic	unknown
ss66930308	ILLUMINA\|HumanHap550v1.1_rs1138454	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	11/14/06	11/14/06	127	Genomic	unknown
ss67088092	ILLUMINA\|HumanHap650Yv1.0_rs1138454	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	11/14/06	11/14/06	127	Genomic	unknown
ss68854453	PERLEGEN\|PGP02339339	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	01/30/07	08/14/07	127	Genomic	unknown
ss70393591	ILLUMINA\|HumanHap300v2.0_rs1138454	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	04/18/07	11/18/07	127	Genomic	unknown
ss70528291	ILLUMINA\|HumanHap550v3.0__rs1138454	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	04/20/07	03/30/08	130	Genomic	unknown
ss71058569	ILLUMINA\|HumanHap650Yv3.0_rs1138454	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	04/23/07	04/23/07	127	Genomic	unknown
ss74810174	AFFY\|SNP_M-183504	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	08/09/07	08/09/07	128	Genomic	unknown
ss75663255	ILLUMINA\|ILMN_Human_1M_rs1138454	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	08/28/07	08/29/07	129	Genomic	unknown
ss76649979	AFFY\|AFFY_6_1M_SNP_A-8511231	rev/B	C/T	ttctgtacctgtttaa	ggcccctgacatttga	08/28/07	08/30/07	129	Genomic	unknown
ss76897107	SI_EXO\|NT_022517.17_17148271	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	09/20/07	09/20/07	129	Genomic	unknown
ss77241047	HGSV\|Cor12156_SNV_20070510.chr3_17183271	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	10/09/07	10/12/07	129	Genomic	unknown
ss83687543	KRIBB_YJKIM\|KHS519571	fwd/T	A/G	caaggccagagcgttcaaatgtcaggggcc	ttaaacaggtacagaaactctgaggaacat	12/04/07	12/05/07	130	Genomic	unknown
ss95988093	HUMANGENOME_JCVI\|1103656035250	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	03/25/08	03/25/08	130	Genomic	unknown
ss111326940	1000GENOMES\|CEU.trio.12.15.2008_652656_chr3_17183271	rev/B	C/T	atgttcctcagagtttctgtacctgtttaa	ggcccctgacatttgaacgctctggccttg	12/15/08	12/17/08	130	Genomic	unknown

Fasta sequence (Legend)

 CCATATGTGA CCCTGTGAGA ACCTGGCTAT TAAATGTCCT GACGTTTTTC TTGCTCACTG
 CTAAGCCAGC AGCTGTGATA AAATTAGATT TTTTTCTCAT TATTTGTTTC TTATAGTAAA
 ATATTAATAT TCATACTATA AAAAATGATT GATGACAAGG CTAGTTCAAA TGTCTGAGAG
 ATTTAGCTAG CATCTGAAAA CAAACTCATC CATTTTTTTC ATTTATTTTC TTCTTCTTTG
 AAAATAGATC AAAGACATTC TAAAAGGTTC CCTGCGTTTT AACCAGAGCC AGCTAGAGGC
 CGAAGAGAAC GAACAGATCA CCATTGCGGA CAACCACTAC TGCTCCAGCG GCCAGGGCCA
 GGGCCGAGGC CAAGGCCAGA GCGTTCAAAT GTCAGGGGCC
 R
 TTAAACAGGT ACAGAAACTC TGAGGAACAT GTTACATTAA CTCAAAGGGA GCACATTCAC
 ATAAGTTCCT CAAAGTTAAG AATACACCCT ACCAAAGTTA CTTCAAATTA CCATGTATGA
 AGTTCAACTG CGGAGGTGCT GTGTACAGCT GTGCAGGCTG TGCACTCTGT GCTGCAGGGG
 GTGCCATTCA CAATGATACT GGTAAGACAA GTGTCTCCTA GAGCCGTGCG GTGCGTGCCC
 TACAAACCCG TGTGCAGCAG TGCTGCCTGA GCCTCCTGCC ATGCCCATTC TGTGCGATGG
 GAAAGCTGGA TCTCTGTCTT AGTTATCAGT CAGTTGCCTC CAGCTGATGC CTCTTTTCCC
 CTTTAGGAAG TACTGTCTAG GCTTTCCTAA TGCTGTCTCG

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NT_022517.17 ABBA01025124 AC090644 Hs.115740

dbSNP Blast Analysis

UniGene Cluster ID
475629

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss16988313	CEPH		184	AF					0.640	0.360

	CHMJ	Asian	74	IG					0.946	0.054

ss24619657	AFD_EUR_PANEL	European	48	IG	0.333	0.500	0.167	1.000	0.583	0.417

	AFD_AFR_PANEL	African American	46	IG	0.652	0.348		0.317	0.826	0.174

	AFD_CHN_PANEL	Asian	48	IG	0.958	0.042		1.000	0.979	0.021

ss44428135	HapMap-CEU	European	120	IG	0.300	0.533	0.167	0.527	0.567	0.433

	HapMap-HCB	Asian	90	IG	0.844	0.156		0.584	0.922	0.078

	HapMap-JPT	Asian	88	IG	0.932	0.068		1.000	0.966	0.034

	HapMap-YRI	Sub-Saharan African	120	IG	0.583	0.350	0.067	0.752	0.758	0.242

ss48423633	AGI_ASP population	multiple	62	IG	0.548	0.387	0.065	1.000	0.742	0.258

ss68854453	HapMap-CEU	European	120	GF	0.300	0.533	0.167		0.567	0.433

	HapMap-HCB	Asian	90	GF	0.844	0.156			0.922	0.078

	HapMap-JPT	Asian	90	GF	0.933	0.067			0.967	0.033

	HapMap-YRI	Sub-Saharan African	120	GF	0.583	0.350	0.067		0.758	0.242