| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 83/130 | | 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 | | NG_005990.1:g.92477C>T | | NG_005994.1:g.136971T>C | | NM_001083539.1:c.5T>C | | NM_013289.2:c.5C>T | | NP_001077008.1:p.Leu2Ser | | NP_037421.2:p.Ser2Leu | | NT_011109.15:g.27596150C>T |
| |
SNP Details are organized in the following sections:
The submission ss41027651 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs605219 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 |
|---|
| ss777272 | SC_JCM|AL133414.3_70111 |   | fwd/B | C/T | agccgcctgtctgcaccggcagcaccatgt | gctcatggtcgtcagcatggcgtgtgttgg | 07/27/00 | 04/07/04 | 83 | Genomic | | | unknown | | ss1522942 | LEE|351534 | | fwd/B | C/T | agccgcctgtctgcaccggcagcaccatgt | gctcatggtcgtcagcatggcgtgtgttgg | 09/13/00 | 10/10/03 | 126 | cDNA | | | unknown | | ss4113761 | SC_JCM|AC011501.6_67673 | | fwd/B | C/T | agccgcctgtctgcaccggcagcaccatgt | gctcatggtcgtcagcatggcgtgtgttgg | 10/15/01 | 10/10/03 | 101 | Genomic | | | unknown | | ss4414174 | LEE|e351534 | | fwd/B | C/T | agccgcctgtctgcaccggcagcaccatgt | gctcatggtcgtcagcatggcgtgtgttgg | 04/26/02 | 10/10/03 | 126 | cDNA | | | unknown | | ss41027651 | ABI|hCV1305497 | | fwd/B | C/T | agccgcctgtctgcaccggcagcaccatgt | gctcatggtcgtcagcatggcgtgtgttgg | 07/17/05 | 07/17/05 | 130 | Genomic | | | unknown | | ss91012368 | BCMHGSC_JDW|JWB-1183872 | | fwd/B | C/T | agccgcctgtctgcaccggcagcaccatgt | gctcatggtcgtcagcatggcgtgtgttgg | 02/26/08 | 03/01/08 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs605219|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130 CATGTTAGCA CAGATTTTAG GCATCTCGTG TTCGGGAGGT TGGATCTGAG ACGTGTTTTG
AGTTGGTCAT AGTGAAGGAC GCGAGGTGTC AATTCTAGTG AGAGCAATTT CCAGGAAGCC
ATGTTCCGCT CTTGAGCGAG CACCCACTGG GCCTCATGCA AGGTAGAAAG AGCCTGCGTA
CGTCACCCTC CCATGATGTG GTCAACATGT AAACTGCATG GGCAGGGCGC CAAATAACAT
CCTGTGCGCT GCTGAGCTGA GCTGGGGCGC AGCCGCCTGT CTGCACCGGC AGCACCATGT
Y
GCTCATGGTC GTCAGCATGG CGTGTGTTGG TGAGTCCTGG AAGGGAATCG AGGGAGGGAG
TGCGGGGATG GAGATCTGGA CCTGGAGGTA AAGATATGGG CCTAGAGGTG GAGTTATGGG
CCTAGAGGTG GAGTTATGGG CCTGAAGTGG AGATCTGGGC CTGGAGTGGA GATCTGGGCC
TGGAGTGGAG ATAGGGGCCT GGGGTGGAGA TATGTGCCTG GAGTGGAGAT CTGGGCCTGG
AGTGGAGATA TGGGCCTGGG GTGGAGATAT GTGCCTGGGG TGGAGAGATG GGCCTGGAGG
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 |
| mRNA to Chr |
Accession |
Position |
Allele change |
Accession |
Position |
Residue change |
on assembly: is labeled at position on chromosome .
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 |
| SNP to mRNA |
Accession |
Position |
Allele change |
Accession |
Position |
Residue change |
on assembly: is labeled at position on chromosome .
GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A
doesn't map to any assembly.
| | Sample Ascertainment | Genotype Detail | Alleles |
|---|
| ss# | Population | Individual
Group | Chrom.
Sample Cnt.
| Source | C/C
 | C/T
 | HWP | C
| T
 |
|---|
| ss777272 | SC_12_AA | African American | 14 | IG | 0.429 | 0.571 | 0.294 | 0.714 | 0.286 | | | | | | | | | | | | SC_12_C | European | 12 | IG | 0.667 | 0.333 | 0.655 | 0.833 | 0.167 | | | | | | | | | | |
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| 0.355+/-0.227 | 24 | 13 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data | | UNKNOWN | UNKNOWN | UNKNOWN |
| 
