Product Details
- SNP ID
-
rs148002848
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:104095476 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTGACCCCCTCTTCAATGCTATCA[C/T]TGGCTTAAATGGTAGTGGGAAATCC
- Phenotype
-
MIM: 605576
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SMC2
PubMed Links
Gene Details
- Gene
- SMC2
- Gene Name
- structural maintenance of chromosomes 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001042550.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
NP_001036015.1 |
NM_001042551.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
NP_001036016.1 |
NM_001265602.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
NP_001252531.1 |
NM_006444.2 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
NP_006435.2 |
XM_006716933.3 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_006716996.1 |
XM_011518148.2 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_011516450.1 |
XM_011518149.2 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_011516451.1 |
XM_011518150.2 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_011516452.1 |
XM_011518151.2 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_011516453.1 |
XM_011518152.2 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_011516454.1 |
XM_011518153.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_011516455.1 |
XM_017014206.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869695.1 |
XM_017014207.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869696.1 |
XM_017014208.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869697.1 |
XM_017014209.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869698.1 |
XM_017014210.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869699.1 |
XM_017014211.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869700.1 |
XM_017014212.1 |
322 |
Missense Mutation |
ACT,ATT |
T31I |
XP_016869701.1 |
- Gene
- SMC2-AS1
- Gene Name
- SMC2 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.
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