| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 127/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | C/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000550.1:c.1513C>T | | NM_000550.2:c.1513C>T | | NP_000541.1:p.Arg505Cys | | NT_008413.17:g.12699081C>T |
| |
SNP Details are organized in the following sections:
The submission ss61706469 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41303651 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 |
|---|
| ss61706469 | SI_EXO|NT_008413.16_12699081 |  | fwd/B | C/T | gggactgcttcttatctgattcgtgccaga | gcagtatggatgaagctaaccagcctctcc | 07/11/06 | 07/11/06 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs41303651|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127 TCCGGGCTCC AAAGCCAACT TTATTGCTTA CCAACCAAGT GACCTGGGTA AGTGACTCAG
ACTCATTGAG TCATCATTCT CTCACTTTCA CAAAATGAAA TGGAAATAAC AATGACTATC
CCAATAGGGT CCACTCATTA AAAGAAATCA GGAAGTGGCT TCAAGGCCAT GTGGCCAATG
TAAATTAAAT ATGAGGATTT CTGTTAAAAT AGACATTTCT AAATTTCATC TGTCCACTTT
TTGGTGATAA CTATTTTAAT ATTTGTCTTT TTATTTTTAT CTTCCTTTCC AAATAGGTCG
GGAGTTTAGT GTACCTGAGA TAATTGCCAT AGCAGTAGTT GGCGCTTTGT TACTGGTTGC
ACTCATTTTT GGGACTGCTT CTTATCTGAT TCGTGCCAGA
Y
GCAGTATGGA TGAAGCTAAC CAGCCTCTCC TCACTGATCA GTATCAATGC TATGCTGAAG
AATATGAAAA ACTCCAGAAT CCTAATCAGT CTGTGGTCTA ACAAATGCCC TACTCTCTTA
TGCATTAGTA TCACAAAACC ACCTGGTTGA ATATAATAGA TTGAGTTATT AACTGTATTT
TCTTTCACTT TATTACCTTC TTTCTAATAC AAGCATATGT TAGCATTAAA GTTCTAGGCA
TACTTTTCAA AGCTGGGAAG ACCCTTTCAG AATCTTTTCA ATGGGTTTTA ATTTTCAGTT
CTATTTAAAA TGGTGAATGA CACTAAACTC CATGATATTT AAGGATAGTG TGAAGATCTT
TGGCATGATT TAAAGGTTGA GTATGTGAAG ATATAAGTAA
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.
There is no frequency data.
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data | | UNKNOWN | UNKNOWN | UNKNOWN |
| 
