Reference SNP(refSNP) Cluster Report: rs151936

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Reference SNP(refSNP) Cluster Report: rs151936

refSNP ID: rs151936
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	79/129
Map to Genome Build:	36.3

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

HGVS Names
NM_001042440.1:c.675+784A>G
NM_001042441.1:c.741+784A>G
NM_001042442.1:c.732+784A>G
NM_001042443.1:c.549+784A>G
NM_001042444.1:c.426+784A>G
NM_001042445.1:c.483+784A>G
NM_001042446.1:c.426+784A>G
NM_001750.5:c.798+784A>G
NM_173060.2:c.483+784A>G
NM_173063.1:c.732+784A>G
NT_023148.12:g.4388307A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1766888 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs151936 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
ss315079	KWOK\|OVLP-000621-3851		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	79	Genomic			99 %
ss315993	KWOK\|OVLP-000621-6419		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	79	Genomic			99 %
ss316141	KWOK\|OVLP-000621-7044		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss316301	KWOK\|OVLP-000621-7538		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss317056	KWOK\|OVLP-000621-9586		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss317168	KWOK\|OVLP-000621-10084		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss320502	KWOK\|OVLP-000621-21218		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss320625	KWOK\|OVLP-000621-21552		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss329618	KWOK\|OVLP-000621-50395		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	87	Genomic			99 %
ss329710	KWOK\|OVLP-000621-50879		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	06/30/00	10/10/03	86	Genomic			99 %
ss336341	KWOK\|OVLP-000621-74461		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	06/30/00	10/10/03	94	Genomic			99 %
ss336456	KWOK\|OVLP-000621-74792		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	06/30/00	10/10/03	87	Genomic			99 %
ss640228	SC_JCM\|AC020923.4_64089		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	07/12/00	10/10/03	86	Genomic			unknown
ss1069434	KWOK\|OVLP-000804-3452		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	09/02/00	10/10/03	86	Genomic			99 %
ss1182986	KWOK\|OVLP-000804-599255		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			99 %
ss1184005	KWOK\|OVLP-000804-602859		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	09/02/00	10/10/03	86	Genomic			99 %
ss1185353	KWOK\|OVLP-000804-609513		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			99 %
ss1186146	KWOK\|OVLP-000804-613340		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			99 %
ss1187074	KWOK\|OVLP-000804-617056		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			99 %
ss1188225	KWOK\|OVLP-000804-622380		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			99 %
ss1188927	KWOK\|OVLP-000804-625223		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			99 %
ss1192407	KWOK\|OVLP-000804-636422		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	09/02/00	10/10/03	86	Genomic			99 %
ss1258823	KWOK\|OVLP-000804-605427		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			97 %
ss1259922	KWOK\|OVLP-000804-619208		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	09/02/00	10/10/03	86	Genomic			97 %
ss1261985	KWOK\|OVLP-000804-637917		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	09/02/00	10/10/03	86	Genomic			97 %
ss1766888	KWOK\|OVLP-000925-143691		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	05/16/04	87	Genomic			99 %
ss1766917	KWOK\|OVLP-000925-145075		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	10/10/03	87	Genomic			99 %
ss1767682	KWOK\|OVLP-000925-162883		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	10/10/03	87	Genomic			99 %
ss1768700	KWOK\|OVLP-000925-175911		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	10/10/03	87	Genomic			99 %
ss1768968	KWOK\|OVLP-000925-182432		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	10/05/00	10/10/03	87	Genomic			99 %
ss1770196	KWOK\|OVLP-000925-196153		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	10/10/03	87	Genomic			99 %
ss1821538	KWOK\|OVLP-000925-152613		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	10/10/03	87	Genomic			97 %
ss1824129	KWOK\|OVLP-000925-204961		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	10/05/00	10/10/03	87	Genomic			97 %
ss1824832	KWOK\|OVLP-000925-221564		fwd/B	C/T	agggtttcaccatgttggctaggctggtct	gaactcctgacctcagatgatccgcctgcc	10/05/00	10/10/03	87	Genomic			97 %
ss42516614	ABI\|hCV26382063		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	07/18/05	07/18/05	126	Genomic			unknown
ss93177733	BCMHGSC_JDW\|JWB-2009733		rev/T	A/G	ggcaggcggatcatctgaggtcaggagttc	agaccagcctagccaacatggtgaaaccct	02/26/08	03/04/08	129	Genomic			unknown

Fasta sequence (Legend)

>gnl|dbSNP|rs151936|allelePos=544|totalLen=824|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129

 TGGCAATCTC TCTACAGGTG GACTTCCTGG TTGAAGGGAA TGTTCATCAT GAACACCCAC
 CAGCTATAGG AAAACTATAG GAATTGTCAG ACTTTCACGC TTTTGCTAAT CTGATAAATG
 CAAAGCAGTG TTTCTTCTGT GTTTTAGTAT CATTATCCTA ATTACTAAGG AGAGTTTCAT
 TTTACTTGCT TATTGGTCAG TCAAGTTTTC TCTCGATTTT CTATTGGGtt gtctttttct
 gttttttatt ctttataaat tctagaaaca aaccctttgt taatgtctgt tgcaaatatt
 tttgtctagc ctatggcgtg tctttttttt tttttttttg agatggagtc tcatccatgt
 tgcccaggct ggagtgcaat ggcatgatcc cagctaactg caaccactgc ctcccgggtt
 caagcagttc tcctgcctca gcctcctgag tagctgggat tacagccatg cgccaacatt
 cctgactaat ttttttgtat ttttagtaga gacagggttt caccatgttg gctaggctgg
 tct
 Y
 gaactcctga cctcagatga tccgcctgcc tcggcctccc aaagtgctgg gattacaggt
 gtgagccacc atgcctggct ggcatgtctt ttttttaata CCAAGGAAAA TATAATTTTA
 GGAATTAGGA ATAGGGATAA ACTGAGGGTG GTAAATATCG AGAAATCAAA ACAAGTTCTA
 GTCCATTATA CTTAAATCTT GAGGATGGAA AATAAGTGTG TGACCCAGTG GACCGTGTCC
 CAGTGTCAAT CTTAGCACAA CAACAAATGT TTGCTAACTC

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_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_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_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_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_001042440->NP_001035905	4388307	forward		intron

reference	NT_023148->NM_001042441->NP_001035906	4388307	forward		intron

reference	NT_023148->NM_001042442->NP_001035907	4388307	forward		intron

reference	NT_023148->NM_001042443->NP_001035908	4388307	forward		intron

reference	NT_023148->NM_001042444->NP_001035909	4388307	forward		intron

reference	NT_023148->NM_001042445->NP_001035910	4388307	forward		intron

reference	NT_023148->NM_001042446->NP_001035911	4388307	forward		intron

reference	NT_023148->NM_001750->NP_001741	4388307	forward		intron

reference	NT_023148->NM_173060->NP_775083	4388307	forward		intron

reference	NT_023148->NM_173063->NP_775086	4388307	forward		intron

HuRef	NW_001838952->NM_001042440->NP_001035905	42712003	reverse		intron

HuRef	NW_001838952->NM_001042441->NP_001035906	42712003	reverse		intron

HuRef	NW_001838952->NM_001042442->NP_001035907	42712003	reverse		intron

HuRef	NW_001838952->NM_001042443->NP_001035908	42712003	reverse		intron

HuRef	NW_001838952->NM_001042444->NP_001035909	42712003	reverse		intron

HuRef	NW_001838952->NM_001042445->NP_001035910	42712003	reverse		intron

HuRef	NW_001838952->NM_001042446->NP_001035911	42712003	reverse		intron

HuRef	NW_001838952->NM_001750->NP_001741	42712003	reverse		intron

HuRef	NW_001838952->NM_173060->NP_775083	42712003	reverse		intron

HuRef	NW_001838952->NM_173063->NP_775086	42712003	reverse		intron

Celera	NW_922729->NM_001042440->NP_001035905	25358718	forward		intron

Celera	NW_922729->NM_001042441->NP_001035906	25358718	forward		intron

Celera	NW_922729->NM_001042442->NP_001035907	25358718	forward		intron

Celera	NW_922729->NM_001042443->NP_001035908	25358718	forward		intron

Celera	NW_922729->NM_001042444->NP_001035909	25358718	forward		intron

Celera	NW_922729->NM_001042445->NP_001035910	25358718	forward		intron

Celera	NW_922729->NM_001042446->NP_001035911	25358718	forward		intron

Celera	NW_922729->NM_001750->NP_001741	25358718	forward		intron

Celera	NW_922729->NM_173060->NP_775083	25358718	forward		intron

Celera	NW_922729->NM_173063->NP_775086	25358718	forward		intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs151936 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	42712003	91264705	plus	T	alt_assembly_8	HuRef	HuRef	view	543
5	NW_922729.1	25358718	91958874	minus	A	alt_assembly_1	Celera	Celera	view	543
5	NT_023148.12	4388307	96100191	minus	A	ref_assembly	reference	reference	view	543

NCBI Resource Links

Submitter-Referenced
GenBank
AC020923 AC008452 AC008906 AC008906.4 AC008955 AC008955.3 AC008963 AC008963.5 AC020900.4 AC020923.5 AC026435 AC026435.2

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC008906.5 AC020900.5 NC_000005.8	AC008452.5 AC008963.5 AC026435.2

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	C	T
ss1766888	CEPH		184	AF		0.550	0.450

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.495+/-0.050	0	0	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, NCBI

UNKNOWN

UNKNOWN

UNKNOWN

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Revised: May 25, 2006 1:38 PM .