Product Details
- SNP ID
-
rs35037612
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:63701844 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGGGGCTCACCTCCACATCCTGCT[C/T]GTTGGCCAGCACCAAGACGGGGACA
- Phenotype
-
MIM: 604699
MIM: 608833
MIM: 603361
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ARFRP1
PubMed Links
Gene Details
- Gene
- ARFRP1
- Gene Name
- ADP ribosylation factor related protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001134758.3 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
NP_001128230.1 |
| NM_001267544.2 |
457 |
Missense Mutation |
CAA,CGA |
Q134R |
NP_001254473.1 |
| NM_001267545.2 |
457 |
Intron |
|
|
NP_001254474.1 |
| NM_001267546.2 |
457 |
Missense Mutation |
AAG,GAG |
K88E |
NP_001254475.1 |
| NM_001267547.2 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
NP_001254476.1 |
| NM_001267548.2 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
NP_001254477.1 |
| NM_001267549.2 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
NP_001254478.1 |
| NM_003224.5 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
NP_003215.1 |
| XM_011528482.2 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
XP_011526784.1 |
| XM_011528483.1 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
XP_011526785.1 |
| XM_017027576.1 |
457 |
Missense Mutation |
AAG,GAG |
K135E |
XP_016883065.1 |
- Gene
- RTEL1
- Gene Name
- regulator of telomere elongation helicase 1
There are no transcripts associated with this gene.
- Gene
- RTEL1-TNFRSF6B
- Gene Name
- RTEL1-TNFRSF6B readthrough (NMD candidate)
There are no transcripts associated with this gene.
- Gene
- TNFRSF6B
- Gene Name
- TNF receptor superfamily member 6b
There are no transcripts associated with this gene.
- Gene
- ZGPAT
- Gene Name
- zinc finger CCCH-type and G-patch domain containing
There are no transcripts associated with this gene.
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