Product Details
- SNP ID
-
rs139302994
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:137233013 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCCCCCCACCAGCAGTGCTGACTG[C/T]CCGGGTGTCTGTGCCCATCATCATG
- Phenotype
-
MIM: 609826
MIM: 602660
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CYSRT1
PubMed Links
Gene Details
- Gene
- CYSRT1
- Gene Name
- cysteine rich tail 1
There are no transcripts associated with this gene.
- Gene
- RNF224
- Gene Name
- ring finger protein 224
There are no transcripts associated with this gene.
- Gene
- SLC34A3
- Gene Name
- solute carrier family 34 member 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001177316.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
NP_001170787.1 |
NM_001177317.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
NP_001170788.1 |
NM_080877.2 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
NP_543153.1 |
XM_011518257.2 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_011516559.1 |
XM_011518258.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_011516560.1 |
XM_011518259.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_011516561.1 |
XM_011518260.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_011516562.1 |
XM_011518261.2 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_011516563.1 |
XM_017014290.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_016869779.1 |
XM_017014291.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_016869780.1 |
XM_017014292.1 |
644 |
Missense Mutation |
GCC,GTC |
A153V |
XP_016869781.1 |
- Gene
- TUBB4B
- Gene Name
- tubulin beta 4B class IVb
There are no transcripts associated with this gene.
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