| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 111/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | C/G | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_001010845.2:c.1003G>C | | NP_001010845.1:p.Val335Leu | | NT_010393.15:g.11800079G>C |
| |
SNP Details are organized in the following sections:
The submission ss7887982 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4643305 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 |
|---|
| ss6306453 | SC_JCM|NT_010441.10_58785 |  | fwd/B | C/G | agttacaagttcccccatctacagaactgc | tcactgtaggggagtcccttcttccagaaa | 01/10/03 | 10/10/03 | 111 | Genomic | | | unknown | | ss7887982 | DEVINE_LAB|DB_1_267289 | | fwd/B | C/G | agttacaagttcccccatctacagaactgc | tcactgtaggggagtcccttcttccagaaa | 03/16/03 | 10/10/03 | 113 | Genomic | | | 96 % |
>gnl|dbSNP|rs4643305|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=113 AGCTCACAAT TGTAACCACT GTGCATAGCC ATAAGTTGGC ATTTGACCTG GTGACCAATG
TCTCACCTGG CTCTTGTCTT CCAGACACTC TCCAGTTATC CAATCAAGAG TATGATGGGT
GCCCCCATTG TTTACCGGAT GTTGCTACAG CAGGATCTTT CCAGGTGATG GGGCTTTGAG
GATTGGTAAG AGAGTCTGGC CCCATCCCCC TGACTCCCTC ACATACATTC ATGCCTATCT
ATCTGAATCT CTCGCACACA GAGAGCCCCA TGAAGCCATT TGCATCATCA AAGCACCCAG
AAACCCAGTC TAGTCCTGAG TGGACTTTGG TTCCAGGGAG GCTGAGGGCA AACATTTATT
TCTCTTCTTC AGTTACAAGT TCCCCCATCT ACAGAACTGC
S
TCACTGTAGG GGAGTCCCTT CTTCCAGAAA CTCTGGAGAA CTGGAGGGCC CAGACAGGAC
TGGACATCCG AGAATCCTAT GGCCAGACAG AAACGGTACC TGTTCCCAGG GGAACCATGG
GCTGGGTGCA CTTTTTGGGC TTCAAAATTC TCTTTGACAA TAAAAATTGT TAGCCACCAT
GTATCattca tctattcgag aagtatttat tgagcctcta tgaagggaca ggtactgagt
attgaaaatt ccgcacagaa caaaaaaggc aaagttcctg ttttctggga gattacattc
cagtgagatt tggggagaga gaaaataaac taagaaatat ctagcatggc aggtggtgag
aaatgcgatg gaaaaagtaa agtagATGAC ATGGGGTGAG
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.
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| | 525 | 409 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |  | UNKNOWN | UNKNOWN | UNKNOWN |
| 
